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Drivers of patient and caregiver preferences for growth hormone deficiency treatments in France: a discrete choice experiment. Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-11-29 Michel Polak,Béatrice Demaret,Robin Henocque,Lylia Chachoua,Samuel Aballea,Marwa Mezghani,Daria La Torre,Lara Salvi,Philippe Touraine
INTRODUCTION To identify drivers of preference for growth hormone deficiency (GHD) treatment in French children, and their caregivers, and to quantify the relative importance of different aspects of treatment modalities using a discrete choice experiment (DCE). MATERIALS AND METHODS Attributes characterizing GHD treatment modalities were identified through a literature review, qualitative interviews
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Growth and Treatment in Congenital Adrenal Hyperplasia: An Observational Study from Diagnosis to Final Height. Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-11-28 Sebastian Gidlöf,Daniel Eriksson Hogling,Hanna Lönnberg,Martin Ritzén,Svetlana Lajic,Anna Nordenström
Introduction Congenital adrenal hyperplasia (CAH) due to 21α-hydroxylase deficiency results in inadequate cortisol and aldosterone synthesis and concomitant overproduction of adrenal androgens. Despite adequate replacement, impaired growth and overweight remains a clinical challenge. The main objective was to investigate the differences in growth, final height (FH), and body mass index (BMI) between
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Thioredoxin Reductase 2 (TXNRD2) Variant As A Cause Of Micropenis, Undescended Testis And Selective Glucocorticoid Deficiency. Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-11-27 Supitcha Patjamontri,Angela K Lucas-Herald,Martin McMillan,Rathi Prasad,Louise A Metherell,Ruth McGowan,Edward S Tobias,S Faisal Ahmed
INTRODUCTION Variants in genes that play a role in maintaining cellular redox homeostasis in adrenocortical cells may be associated with glucocorticoid deficiency and it is unclear whether these cases may be associated with a wider phenotype. However, to date, only one case of a genetic variant in TXNRD2, the gene encoding thioredoxin reductase Type 2, in a South Asian kindred with familial glucocorticoid
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SUCCESSFUL USE OF METYRAPONE SUPPOSITORIES IN AN INFANT WITH NEONATAL CUSHING AND MCCUNE ALBRIGHT SYNDROME- A CASE REPORT. Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-11-24 Diana-Alexandra Ertl,Gerda Ratzinger-Stoeger,Adalbert Raimann,Maria Anzengruber,Katharina Skoll,Franz Gabor,Michaela F Hartmann,Stefan A Wudy,Gabriele Hartmann
A female toddler was diagnosed at age ten months with peripheral precocious puberty and hypercortisolism related to McCune Albright Syndrome with additional systemic complications. We present the first successful, long-term use of metyrapone as suppositories, with striking clinical and biochemical improvement and no side-effects.
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Characteristics of patients with classic congenital adrenal hyperplasia missed on the newborn screen. Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-11-22 Rita Saroufim,Todd D Nebesio,Erica A Eugster
BACKGROUND Newborn screening for congenital adrenal hyperplasia (CAH) has been in place in the USA for over 20 years. However, not all patients with classic CAH are diagnosed as neonates. OBJECTIVES Our aim was to characterize patients with classic CAH who were missed on the newborn screen (NBS) in Indiana and determine if discriminating features were present that might have led to earlier detection
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Urinary Bisphenol-A (BPA) and Bis(2-ethylhexyl)phthalate (DEHP) metabolite concentrations in children with obesity: A case-control study. Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-11-16 Annalisa Deodati,Giorgia Bottaro,Daniela Germani,Fabrizia Carli,Sabrina Tait,Luca Busani,Veronica Della Latta,Anna Paola Pala,Francesca Maranghi,Roberta Tassinari,Amalia Gastaldelli,Cinzia La Rocca,Stefano Cianfarani,
Introduction Obesity is a worldwide public health problem. Experimental animal and in vitro studies suggest that the exposure to BPA and phthalates are associated to a higher risk of obesity. Objective To determine urinary excretion of bisphenol A and phthalates in obese and normal weight children. Methods A case-control study was conducted in 122 children. Sixty-six obese children 36 girls (mean age
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Pulmonary injury after radioactive iodine therapy in pediatric papillary thyroid cancer: a case report. Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-11-13 Stephen Halada,Shoshana Leftin Dobkin,Julia A Baran,Lindsay Sisko,Stephanie L Robbins,Jordan B Rapp,Lisa R Young,Andrew J Bauer
INTRODUCTION Radiation-induced lung injury is a rare complication of radioactive iodine therapy (RAIT) in pediatric thyroid cancer treatment. In this case report, we describe a pediatric patient with an ERC1::RET-positive classic papillary thyroid carcinoma who developed progressive respiratory symptoms and chest imaging abnormalities following RAIT for lymph node and pulmonary disease. CASE PRESENTATION
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Beneficial effects of RESMENA diet on anthropometric, metabolic and reproductive profile in adolescents with obesity and polycystic ovary syndrome: a randomized controlled intervention study. Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-11-10 Rukiye Bozbulut,Esra Döğer,Mahmut Orhun Çamurdan,Aysun Bideci
INTRODUCTION The optimal dietary strategy to improve the metabolic and reproductive endocrine profile in adolescents with obesity and polycystic ovary syndrome is undefined. This study was conducted to evaluate the efficacy of the MEtabolic Syndrome REduction in NAvarra (RESMENA) diet versus a control diet based on American Heart Association (AHA) recommendations for the treatment of PCOS in adolescents
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Venous thrombosis in a pseudohypoparathyroidism patient with a novel GNAS frameshift mutation and complete resolution of vascular calcifications with acetazolamide treatment. Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-10-31 Tuba Seven Menevse,Yorihiro Iwasaki,Zehra Yavas Abali,Busra Gurpinar Tosun,Didem Helvacioglu,Ömer Dogru,Onur Bugdayci,Sajin M Cyr,Tulay Güran,Abdullah Bereket,Murat Bastepe,Serap Turan
Introduction Pseudohypoparathyroidism type IA (PHP1A) is characterized by end-organ resistance to multiple hormones and Albright's hereditary osteodystrophy (AHO). PHP1A is caused by inactivating mutations of the GNAS gene encoding the α-subunit of the stimulatory G protein (Gsα). In line with the underlying genetic defect, impaired inhibition of platelet aggregation has been demonstrated in some patients
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Short Stature and Distinct Growth Characteristics in Angelman Syndrome. Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-10-16 Noah Gruber,Ayman Daka,Noy Lapidot,Dalit Modan-Moses,Orit Pinhas-Hamiel,Bruria Ben Zeev,Gali Heimer
Objectives - Angelman syndrome (AS) is a rare, genetic, neurodevelopmental disorder characterized by severe impairments in speech, cognition and motor skills accompanied by unique behaviors, distinct facial features and high prevalence of epilepsy and sleep problems. Despite some reports of short stature among AS patients, this feature is not included in the clinical criteria defined in 2005. We investigated
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Longitudinal changes in acylated versus unacylated ghrelin levels may be involved in the underlying mechanisms of the switch in nutritional phases in Prader-Willi syndrome. Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-10-13 Lionne N Grootjen,Gwenaelle Diene,Catherine Molinas,Véronique Beauloye,T Martin Huisman,Jenny A Visser,Patric J D Delhanty,Gerthe F Kerkhof,Maithe Tauber,Anita C S Hokken-Koelega
INTRODUCTION Prader-Willi syndrome (PWS) is characterized by a switch from failure to thrive to excessive weight gain and hyperphagia in early childhood. An elevated, more unfavorable ratio between acylated and unacylated ghrelin (AG/UAG ratio) might play a role in the underlying mechanisms of this switch. We aimed to assess the evolution of the appetite regulating hormones acylated ghrelin (AG) and
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Sensitivity to thyroid hormones and reduced glomerular filtration in children and adolescents with overweight or obesity. Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-10-09 Procolo Di Bonito,Domenico Corica,Pierluigi Marzuillo,Anna Di Sessa,Maria Rosaria Licenziati,Maria Felicia Faienza,Valeria Calcaterra,Francesca Franco,Giulio Maltoni,Giuliana Valerio,Malgorzata Wasniewska
BACKGROUND Reduced central sensitivity to thyroid hormones (TH) has been observed in euthyroid adults with reduced renal function. This topic is unexplored in young people with overweight or obesity (OW/OB). OBJECTIVE To evaluate the association between sensitivity to TH and mild reduced estimated glomerular filtration rate (MReGFR) in euthyroid children and adolescents with OW/OB. METHODS Data of
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The Association between Vitamin D deficiency and Hepatosteatosis in Children and Adolescents with Obesity. Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-10-04 Hüseyin Anıl Korkmaz,Ved Bhushan Arya,Vatan Barisik,Dincer Atila,Fulya Coskunol,Serra Alci,Yasin Ertug Cekdemir,Derun Torlak,Behzat Özkan
INTRODUCTION Increasingly, research groups have been studying the association of serum vitamin D and metabolic health indicators, especially in patients with obesity. We compared the serum 25-hydroxy Vitamin D [25(OH)D] concentrations in children and adolescents who had obesity and hepatosteatosis with children and adolescents who had obesity without hepatosteatosis, and investigate the relationship
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Screening for Turner syndrome-associated hyperglycemia: Evaluating hemoglobin A1c and fasting blood glucose. Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-10-03 Maria Graciela Parra Villasmil,Kelli K Ryckman,Andrew W Norris,Catherina T Pinnaro
INTRODUCTION Individuals with Turner syndrome (TS) are at increased risk of developing diabetes mellitus (DM). Currently, annual DM screening with hemoglobin A1c (HbA1c) with or without fasting blood glucose (FBG) is recommended starting at age 10. However, the optimal DM screening for individuals with TS is not known. The purpose of this study was to evaluate the correlation between HbA1c, FBG, and
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A Novel, Heterozygous, de novo Splicing Variant Affecting the Intracellular Domain of the Growth Hormone Receptor causing a mild short stature. Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-09-19 Aristeidis Giannakopoulos,Anastasios D Papanastasiou,Ioannis K Zarkadis,Shayne F Andrew,Ron G Rosenfeld,Alexandra Efthymiadou,Dionisios Chrysis,Vivian Hwa
INTRODUCTION Although the majority of Growth Hormone insensitivity syndrome (GHIS) cases are classical, the spectrum of clinical phenotypes has expanded to include "atypical" GHIS subjects with milder phenotypes due to very rare heterozygous growth hormone receptor (GHR) mutations with dominant negative effects. CASE PRESENTATION A 13-year-old pubertal boy presented with short stature (-1.7 SDS) and
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Abstracts of the ESPE 61 Annual Society Meeting. Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-09-19
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Genetic screening and functional analysis of TPO variants in Chinese patients with congenital hypothyroidism. Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-09-13 Hai-Yang Zhang,Feng-Yao Wu,Xue-Song Li,Cao-Xu Zhang,Ping-Hui Tu,Rui-Meng Yang,Xiao-Yu Liu,Ren-Jie Cui,Liu Yang,Chen-Yang Wu,Rui-Jia Zhang,Ya Fang,Feng Sun,Jun Liang,Feng Cheng,Huai-Dong Song,Shuang-Xia Zhao
INTRODUCTION Congenital hypothyroidism (CH), the most common neonatal endocrine disorder world-wide, can be caused by variants in the thyroid peroxidase (TPO) gene. This study aimed to identify TPO variants in Chinese patients with CH, analyze their impact on TPO function, and establish relationships between TPO genotypes and clinical characteristics. METHODS A total of 328 patients with CH were screened
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Development of A Minimum Dataset for the Monitoring of Recombinant Human Growth Hormone (rhGH) Therapy Use in Children with Growth Hormone Deficiency (GHD) - A GloBE-Reg Initiative. Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-09-13 Suet Ching Chen,Jillian Bryce,Minglu Chen,Evangelia Charmandari,Jin-Ho Choi,Xinyu Dou,Chunxiu Gong,Rasha Hamza,Jamie Harvey,Andrew R Hoffman,Reiko Horikawa,Gudmundur Johannson,Alexander Augusto de Lima Jorge,Bradley S Miller,Sebastian Roehrich,Lars Sävendahl,Xanthippi Tseretopoulou,Diana Vitali,Michael Wajnrajch,S Faisal Ahmed
Introduction Although there are some recommendations in the literature on the assessments that should be performed in children on recombinant human growth hormone (rhGH) therapy, the level of consensus on these measurements is not clear. The objective of the current study was to identify the minimum dataset (MDS) that could be measured in a routine clinical setting across the world, aiming to minimise
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Exogenous Insulin Antibody Syndrome in a Pediatric Patient: Successful Treatment with Mycophenolate Mofetil. Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-09-01 Leslie Saba,Erica M Fatica,Amir B Orandi,Siobhan T Pittock,Ana L Creo
INTRODUCTION Exogenous insulin antibody syndrome (EIAS) rarely occurs in type 1 diabetes and should be considered in those with blood glucose levels outside the target range requiring greater than 2 units/kg/day of insulin without obesity. We describe the novel treatment of this condition using mycophenolate mofetil monotherapy in a pediatric patient in the outpatient setting. CASE PRESENTATION A 17-year-old
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SALL4 phenotype in four generations of one family: An interplay of the upper limb, kidneys, and the pituitary. Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-08-23 Aneta Kodytková,Shenali Anne Amaratunga,Daniela Zemková,Klara Maratová,Petra Dušátková,Lukáš Plachý,Štěpánka Průhová,Stanislava Koloušková,Jan Lebl
INTRODUCTION The SALL4 gene encodes a transcription factor that is essential for early embryonic cellular differentiation of the epiblast and primitive endoderm. It is required for the development of neural tissue, kidney, heart, and limbs. Pathogenic SALL4 variants cause Duane-radial ray syndrome (Okihiro syndrome), acro-renal-ocular syndrome and Holt-Oram syndrome. We report a family with vertical
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Is Growth Hormone Therapy for Previously Small for Gestational Age Safe and Effective? Commentary on Results from the 2005-2018 French National Registry. Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-08-23 Malcolm David Cairns Donaldson
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Blood Pressure in Children with Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency. Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-08-23 Chamila Balagamage,Neil R Lawrence,Ruth Krone,Irina A Bacila,Nils P Krone
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) leads to impaired glucocorticoid and mineralocorticoid synthesis with excess production of androgens. Replication of the normal circadian cortisol secretion is challenging and supraphysiological doses of glucocorticoids are often required. Most patients experience transient episodes of hyper- and hypocortisolaemia during
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Arginine-stimulated copeptin based diagnosis of central diabetes insipidus in children and adolescents. Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-08-22 Sebastian Gippert,Maik Brune,Ruth L Dirksen,Daniela Choukair,Markus Bettendorf
INTRODUCTION Diagnosis of central diabetes insipidus (CDI) remains challenging. Water deprivation testing and hypertonic saline infusion, as established diagnostic tests, are mentally and physically demanding for patients. Arginine-stimulated copeptin has been shown as a putative parameter for the differential diagnosis of CDI in adults. METHODS In this single-centre retrospective study, we identified
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Recombinant Human Insulin-Like Growth Factor-1 Treatment of Severe Growth Failure in Three Siblings with STAT5B Deficiency. Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-08-16 Gajanthan Muthuvel,Sareea Salem Al Remeithi,Corinne Foley,Andrew Dauber,Vivian Hwa,Philippe Backeljauw
INTRODUCTION Patients with homozygous recessive mutations in STAT5B have severe progressive postnatal growth failure and insulin-like growth factor-I (IGF-I) deficiency associated with immunodeficiency and increased risk of autoimmune and pulmonary conditions. This report describes the efficacy and safety of recombinant human IGF-1 (rhIGF-1) in treating severe growth failure due to STAT5B deficiency
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Cross-Cultural Disparities in Psychosocial Research with Individuals with Classical Congenital Adrenal Hyperplasia: A Scoping Review. Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-08-08 Katherine A Traino,Nathan L Basile,Hui-Fen Chang,Rachel S Fisher,Taylor M Dattilo,Larry L Mullins,Annastasia Ediati,Amy B Wisniewski
INTRODUCTION There are increased calls to address psychosocial needs among individuals with classical congenital adrenal hyperplasia (CAH). However, cross-cultural disparities exist in treatment practices and psychosocial outcomes that impact the generalizability of evidence-based recommendations. To date, this disparity has not been quantified. The present scoping review uses a dual approach to contrast
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Prevalence of Polycystic Ovarian Syndrome in Girls with a History of Idiopathic Central Precocious Puberty. Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-08-08 Andrea Josefina Arcari,Analía Verónica Freire,María Gabriela Ballerini,María Eugenia Escobar,Yenifer María Díaz Marsiglia,Ignacio Bergadá,María Gabriela Ropelato,Mirta Graciela Gryngarten
INTRODUCTION The prevalence of polycystic ovarian syndrome (PCOS) in adolescent girls is between 1 and 4.3%. It remains controversial whether women with a history of idiopathic central precocious puberty (ICPP) are at increased risk for PCOS. Our objective was to assess the prevalence of PCOS in adolescents with a history of ICPP compared with healthy adolescents and the prevalence of PCOS among ICPP
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In Memoriam, Nathalie Josso, MD, PhD. Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-08-02 Rodolfo A Rey,Jean-Yves Picard,Raphael Rappaport
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Abstracts of the 2023 Pediatric Endocrine Society (PES) Annual Meeting' to Hormone Research in Paediatrics. Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-07-26
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A novel RNPC3 gene variant expands the phenotype in patients with congenital hypopituitarism and neuropathy. Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-07-18 Zehra Yavas Abali,Ezgi Gokpinar Ili,Firdevs Bas,Melis Ulak Ozkan,Çagrı Gulec,Guven Toksoy,Ayşe Pinar Ozturk,Esin Karakilic Ozturan,Ayça Aslanger,Mine Caliskan,Gozde Yesil,Sukran Poyrazoglu,Feyza Darendeliler,Zehra Oya Uyguner
INTRODUCTION Pathogenic biallelic RNPC3 variants cause congenital hypopituitarism (CH) with congenital cataracts, neuropathy, developmental delay/intellectual disability, primary ovarian insufficiency, and pituitary hypoplasia. Here, we aimed to evaluate the clinical and molecular characteristics of two patients with CH and neuropathy. MATERIAL AND METHODS Proband was evaluated by clinical, laboratory
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Novel Use of Dasiglucagon, a Soluble Glucagon Analog, for the Treatment of Hyperinsulinemic Hypoglycemia Secondary to Suspected Insulinoma: A Case Report. Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-07-14 Dana Reynolds,Lauren M Mitteer,Winifred Sigal,Linda Boyajian,Heather McKnight,Tricia Bhatti,Lisa States,Susan Becker,N Scott Adzick,Katherine Lord,Diva D De Leon
INTRODUCTION Hyperinsulinemic hypoglycemia is the most common cause of persistent hypoglycemia in children and adults. In adolescents and adults, hyperinsulinemic hypoglycemia is most frequently caused by an insulin-producing tumor. CASE PRESENTATION A 17-year-old, previously healthy male presented with recurrent and severe episodes of hypoglycemia. Diagnostic evaluation was consistent with hyperinsulinemic
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International Guidelines for the Diagnosis and Management of Hyperinsulinism. Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-07-14 Diva D De Leon,Jean Baptiste Arnoux,Indraneel Banerjee,Ignacio Bergadá,Tricia Bhatti,Louise S Conwell,Jun Fen Fu,Sarah E Flanagan,David Gillis,Thomas Meissner,Klaus Mohnike,Tai L S Pasquini,Pratik Shah,Charles A Stanley,Adrian Vella,Tohru Yorifuji,Paul S Thornton
Hyperinsulinism (HI) due to dysregulation of pancreatic beta-cell insulin secretion is the most common and most severe cause of persistent hypoglycemia in infants and children. In the 65 years since HI in children was first described, there has been a dramatic advancement in the diagnostic tools available, including new genetic techniques and novel radiologic imaging for focal HI, however; there have
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Clinical Profiles of Children with Hypophosphatasia Prior to Treatment with Enzyme Replacement Therapy: An Observational Analysis from the Global HPP Registry. Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-07-13 Gabriel Ángel Martos-Moreno,Cheryl Rockman-Greenberg,Keiichi Ozono,Anna Petryk,Priya S Kishnani,Kathryn M Dahir,Lothar Seefried,Shona Fang,Wolfgang Högler,Agnès Linglart
INTRODUCTION To better understand the clinical profiles of children with hypophosphatasia (HPP) prior to treatment with enzyme replacement therapy (ERT). METHODS Pretreatment demographics and medical histories of ERT-treated children (aged < 18 years) enrolled in the Global HPP Registry (2015-2020) were analyzed overall, by age at first HPP manifestation (< 6 months versus 6 months to 18 years) and
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Objective burden and emotional distress in parents of children with type 1 diabetes. Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-07-13 Lucie Bazus,Kevin Perge,Pierre Chatelain,Marc Nicolino
INTRODUCTION The management of childhood type 1 diabetes requires the active participation of parents. The aim of the present study was to describe the main characteristics of parents of children with type 1 diabetes, including objective burden regarding time spent on diabetes care, emotional distress (exhaustion, need for respite, quality of life), and symptoms of depression as well as anxiety. METHODS
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Virtual Learning and Youth-Onset Type 2 Diabetes During the COVID-19 Pandemic. Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-06-30 Jody B Grundman,Stephanie T Chung,Elizabeth Estrada,Robert H Podolsky,Abby Meyers,Brynn E Marks
INTRODUCTION Cases and severity of presentation of youth-onset type 2 diabetes (Y-T2D) increased during the COVID-19 pandemic, yet the potential drivers of this rise remain unknown. During this time public health mandates paused in-person education and limited social interactions, resulting in radical lifestyle changes. We hypothesized that the incidence and severity of presentation of Y-T2D increased
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The Relationship Between Metabolic Comorbidities and Post-surgical Weight Loss Outcomes in Adolescents Undergoing Laparoscopic Sleeve Gastrectomy. Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-06-23 Anne Claire Burghard,Virginia Rahming,Anna Sonnett Fisher,Jeffrey Zitsman,Sharon E Oberfield,Ilene Fennoy
BACKGROUND Little is known about the relationship between metabolic factors and weight loss success in adolescents undergoing bariatric surgery. METHODS The objective of this study was to assess if baseline metabolic characteristics associate with weight loss in adolescents undergoing laparoscopic sleeve gastrectomy. A retrospective study was conducted in a comprehensive adolescent bariatric surgery
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Schaaf-Yang syndrome: Clinical phenotype and effects of 4 years of growth hormone treatment. Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-06-21 Alicia F Juriaans,Gerthe F Kerkhof,Mark Garrelfs,Demi Trueba-Timmermans,Anita C S Hokken-Koelega
INTRODUCTION Schaaf-Yang syndrome (SYS) is a rare neurodevelopmental disorder caused by truncating mutations of the MAGEL2 gene, located in the Prader-Willi syndrome (PWS) region. PWS and SYS have phenotypic overlap. Patients with SYS are often treated with growth hormone (GH), but evidence for the effectiveness of the treatment in patients with SYS is limited. METHODS This study describes 7 children
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Phenotype-genotype correlations of GH1 gene variants in patients with isolated growth hormone deficiency (IGHD) or multiple pituitary hormone deficiency (MPHD). Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-06-14 Ayşe Pınar Öztürk,Ayça Dilruba Aslanger,Firdevs Bas,Güven Toksoy,Volkan Karaman,Gulandam Bagirova,Sukran Poyrazoglu,Zehra Oya Uyguner,Feyza Darendeliler,Zehra Yavas Abali
BACKGROUND AND OBJECTIVE Genetic forms of growth hormone deficiency (GHD) may occur as isolated (IGHD) or as a component of multiple pituitary hormone deficiency (MPHD). This study aimed to present patients' clinical and molecular characteristics with IGHD/MPHD due to the GH1 gene variants. MATERIAL AND METHODS A gene panel accommodating 25 genes associated with MPHD and short stature was used to search
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Vascular function and intima-media thickness in children and adolescents with growth hormone deficiency: results from a prospective case-control study. Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-06-08 Nicola Improda,Cristina Moracas,Giuseppina Mattace Raso,Valeria Valente,Giulia Crisci,Paola Lorello,Raffaella Di Mase,Mariacarolina Salerno,Donatella Capalbo
BACKGROUND Growth hormone deficiency (GHD) may be associated with subtle cardiovascular abnormalities, reversible upon starting GH treatment. Data on vascular morphology and function in GHD children are scanty and inconclusive. OBJECTIVE To evaluate the effects of GHD and GH treatment on endothelial function and intima-media thickness (IMT) in children and adolescents. METHODS We enrolled 24 children
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Integrative role of the SALL4 gene: From thalidomide embryopathy to genetic defects of the upper limb, internal organs, cerebral midline, and pituitary. Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-06-07 Aneta Kodytková,Petra Dusatkova,Shenali Anne Amaratunga,Lukas Plachy,Stepanka Pruhova,Jan Lebl
The thalidomide disaster resulted in tremendous congenital malformations in more than 10,000 children in the late 1950s and early 1960s. Although numerous putative mechanisms were proposed to explain thalidomide teratogenicity, it was confirmed only recently that thalidomide, rather its derivative 5-hydroxythalidomide (5HT) in a complex with the cereblon protein, interfere with early embryonic transcriptional
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International newborn screening practices for the early detection of congenital adrenal hyperplasia. Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-05-15 Tracey Anne Conlon,Colin Patrick Hawkes,Jennifer Brady,J Gerard Loeber,Nuala Murphy
INTRODUCTION Newborn screening (NBS) programmes vary internationally in their approach to screening. Guidelines for congenital adrenal hyperplasia (CAH) screening recommend the use of two-tier testing and gestational age cutoffs, to minimise false positive results. The aims of this study were to describe: 1) the approaches; 2) protocols used; and 3) available outcomes for CAH screening internationally
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Fetal Thyrotoxicosis due to Maternal TSH Receptor Stimulating Antibodies Causes Infant Central Hypothyroidism. Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-05-07 Leonie T van Hulsteijn,Jelmer R Prins,Mirjam E A Scheffer-Rath,A S Paul van Trotsenburg,Thera P Links,Robin P F Dullaart
INTRODUCTION Women with a current diagnosis or past history of Graves' disease (GD) are at risk of developing fetal thyrotoxicosis (FT) during pregnancy when they are inadequately treated, or because of placental passage of TSH receptor antibodies (TRAb). It is known that FT induced by high maternal thyroid hormone concentrations may result in infant (central) hypothyroidism. CASE PRESENTATION In a
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Diagnostic accuracy of morning salivary cortisol in the assessment of the hypothalamic-pituitary-adrenal axis recovery after prolonged corticosteroid therapy in children. Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-05-03 María Gabriela Ballerini,Analía Verónica Freire,María Eugenia Rodríguez,Sofía Suco Valle,Sebastián Castro,Andrea Arcari,Ignacio Bergadá,María Gabriela Ropelato
INTRODUCTION Assessment of the hypothalamic-pituitary-adrenal (HPA) axis is necessary after prolonged glucocorticoid therapy withdrawal. Salivary cortisol reflects 65% of the free circulating cortisol fraction. Saliva collection is non-invasive and child friendly. OBJECTIVE We aimed to evaluate the diagnostic accuracy of morning salivary cortisol (mSAF) to determine HPA recovery after prolonged corticosteroid
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Glycemic control by treatment modalities: national registry-based population data in children and adolescents with type 1 diabetes Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-04-26 Zdenek Sumnik, Marketa Pavlikova, Vit Neuman, Lenka Petruzelkova, Petra Konecna, Petra Venhacova, Jaroslav Skvor, Renata Pomahacova, David Neumann, Jan Vosahlo, Jiri Strnadel, Kamila Kocourková, Barbora Obermannova, Alzbeta Santova, Lukas Plachy, Stepanka Pruhova, Ondrej Cinek
AIMS To assess the differences in key parameters of type 1 diabetes (T1D) control associated with treatment and monitoring modalities including newly introduced hybrid closed-loop (HCL) algorithm in children and adolescents with T1D (CwD) using the data from the population-wide pediatric diabetes registry ČENDA. MATERIALS AND METHODS CwD younger than 19 years with T1D duration > 1 year were included
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KEY STAGES IN THE DEVELOPMENT AND ESTABLISHMENT OF PAEDIATRIC ENDOCRINOLOGY - A TEMPLATE FOR FUTURE PROGRESS Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-04-25 Martin O. Savage, Malcolm D.C. Donaldson, Justin H. Davies, Helen L. Storr
Background Paediatric endocrinology became recognised in Western European countries in the 1960s and 1970s. It is now a thriving paediatric sub-specialty in many countries, but remains non-existent or in its infancy in others. We have had the privilege to work in Western centres of excellence and this review outlines the key stages in the development of modern centres, discussing the human and organisational
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Hormone Replacement Therapy After Pubertal Induction in Adolescents and Young Adults with Turner Syndrome: A Survey Study. Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-04-24 Tazim Dowlut-McElroy, Roopa Kanakatti Shankar
Introduction: Turner syndrome (TS) is associated with primary ovarian insufficiency (POI) and most adolescents and young adults (AYA) with TS require treatment with hormone replacement therapy (HRT). International consensus guidelines are unclear on the optimal formulation and dosing for HRT after pubertal induction. This study assessed current HRT practice patterns of endocrinologists and gynecologists
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A critical review of upcoming new therapeutic options in paediatric endocrinology Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-04-24 Stefano Cianfarani, Tadej Battelino
Novel and innovative therapeutic options are now available or will soon become available for treating children and adolescents with endocrine disorders and diabetes. Some of these new medicines and procedures have already been proven effective and safe in adults at least in the short term but their use in children is still limited and some efficacy and safety related aspects raise caution especially
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Effect of Growth Hormone Therapy on Pubertal Timing: Systematic Review and Meta-analysis Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-04-19 Duaa Olwi, Felix Day, Ken Ong
Introduction Recombinant human growth hormone (rhGH) therapy effectively increases height in various disorders of childhood growth. However, whether rhGH affects pubertal timing is unclear. We aimed to review systematically published evidence on the effect of rhGH on pubertal timing. Methods Embase, Medline, and Cochrane library databases were searched until December 2021 on randomized and non-randomized
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Assessment of nutritional status in the diagnostic evaluation of the child with growth failure Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-04-13 Hester Vlaardingerbroek, Sjoerd D Joustra, Wilma Oostdijk, Christiaan de Bruin, Jan M Wit
Current clinical guidelines provide information about the diagnostic work-up of children with growth failure. This mini-review focuses on the nutritional assessment, which has received relatively little attention in such guidelines. The past medical history, in particular a low birth size, early feeding problems and failure to thrive, can provide information that can increase the likelihood of nutritional
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Improvements in glucose regulation in children and young people with cystic fibrosis related diabetes following initiation of Elexacaftor/Tezacaftor/Ivacaftor Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-04-11 Julie Park, Anna Walsh, Sue Kerr, Clare Woodland, Suzanne Southward, Mark Deakin, Senthil Senniappan, Rebecca Thursfield
Introduction: Cystic fibrosis transmembrane receptor (CFTR) modulators are increasingly used in children and young people with Cystic Fibrosis (CF). Data in adults show there may be an impact on glycaemic control in those with CF related diabetes (CFRD). Paediatric data are rare. Case series/presentation: Children aged > 12 years with CFRD, who were eligible for Elexacaftor/Tezacaftor/Ivacaftor (ELX/TEZ/IVA)
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Growth hormone dose modulation and final height in short children born small for gestational age: French real-life data Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-04-11 Régis Coutant, Bruno Leheup, Marc Nicolino, Jean-Pierre Salles
Introduction Growth hormone (GH) therapy improves height outcomes in short children born small for gestational age (SGA); however, real-world data on long-term GH exposure are few. Methods We report results from an observational study (NCT01578135) including children born SGA, treated with GH at 126 sites in France and followed-up for >5 years until achieving final adult height (FAH) or until study
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The genetic landscape of children born small for gestational age with persistent short stature (SGA-SS) Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-04-05 Ledjona Toni, Lukas Plachy, Petra Dusatkova, Shenali Anne Amaratunga, Lenka Elblova, Zdenek Sumnik, Stanislava Kolouskova, Marta Snajderova, Barbora Obermannova, Stepanka Pruhova, Jan Lebl
Introduction. Among children born small for gestational age, 10-15% fails to catch-up and remains short (SGA-SS). The underlying mechanisms are mostly unknown. We aim to decipher genetic aetiologies of SGA-SS within a large single-centre cohort. Methods. Out of 820 patients treated with growth hormone (GH), 256 were classified as SGA-SS (birth length and/or birth weight <-2 SD for gestational age,
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Why should orchidopexy be performed in congenital hypogonadotropic hypogonadism, and when? Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-04-04 Meriem Bensalah-Hammoutene, Guy Van Vliet
Background: In otherwise normal boys with undescended testes, early orchidopexy is recommended to preserve fertility, to decrease the risk of testicular cancer and to facilitate its detection. Indeed, compared to the general population, the risk of testicular cancer is increased two to eight-fold in isolated cryptorchidism and usually occurs before the age of 40 years. By contrast, when cryptorchidism
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Weekly Growth Hormone (Lonapegsomatropin) Causes Severe Transient Hyperglycemia in a Child with Obesity Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-04-04 Einas H. Alkhatib, Andrew Dauber, Doris Elizabeth Estrada, Shideh Majidi
Abstract Introduction: A 12-year-9-month-old non-Hispanic black male with a history of growth hormone deficiency (GHD), pituitary hypoplasia, pre-diabetes, obesity, hypertension, and hyperlipidemia was initiated on weekly growth hormone (lonapegsomatropin-tcgd) and then transiently developed symptomatic hyperglycemia to 500 mg/dL. We aim to describe this medication effect. Case Presentation: He was
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Erratum Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-03-30 Stefano Cianfarani, Sociedade Latino-Americana de Endocrinologia Pediátrica (SLEP), European Society for Paediatric Endocrinology (ESPE), Paul Czernichow, Stefano Cianfarani, Moshe Phillip, Michel Polak, Raimo J. Voutilainen, Jan Maarten Wit, Olaf Hiort, Primus E. Mullis, Olle Söder, Joseph I. Wolfsdorf, Sharon E. Oberfield, Erik Allen Imel, Faisal Syed Ahmed, Mehul T. Dattani, Sergio Bernasconi, Olof
Horm Res Paediatr
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Molecular genetic analysis and growth hormone treatment in a three-generation Chinese family with Tricho-rhino-phalangeal syndrome I Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-03-29 Yaqin Yan, Shan Huang, Lianjing Huang, Jingyi Zhang, Sujuan Li, Cai Zhang, Xiaoping Luo
Background: Tricho-rhino-phalangeal syndrome (TRPS) is a rare genetic disorder characterized by craniofacial and skeletal abnormalities, which is caused by variations in the TRPS1 gene. Methods: Clinical information and follow-up data were collected. Whole-exome sequencing (WES) was performed for variations and validated by Sanger sequencing. Bioinformatic analysis was performed to predict the pathogenicity
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Reversible hypothalamic obesity in a girl with suprasellar tuberculoma Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-03-28 Anne Rochtus, Lieven Lagae, Katrien Jansen, Lien De Somer, François Vermeulen, Francis de Zegher
Introduction: Suprasellar tuberculoma are extremely rare in children and most of those patients present with headache, vomiting, visual disturbances, and hypofunction of the pituitary gland. In this case report, we present a girl with tuberculosis, who developed significant weight gain in combination with pituitary dysfunction, which recovered after antituberculosis treatment. Case presentation: An
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The effects of five years of growth hormone treatment on growth and body composition in patients with Temple syndrome Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-03-28 Alicia F. Juriaans, Demi J. Trueba-Timmermans, Gerthe F. Kerkhof, Lionne N. Grootjen, Sylvia Walet, Theo C.J. Sas, Joost Rotteveel, Nitash Zwaveling-Soonawala, Annemarie A. Verrijn Stuart, Anita C.S. Hokken-Koelega
Introduction: Temple syndrome (TS14) is a rare imprinting disorder caused by maternal uniparental disomy of chromosome 14 (UPD(14)mat), paternal deletion of 14q32.2 or an isolated methylation defect. Most patients with TS14 develop precocious puberty. Some patients with TS14 are treated with growth hormone (GH). However, evidence for the effectiveness of GH-treatment in patients with TS14 is limited
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An Overlooked Manifestation of Hypercortisolism - Cerebral Cortical Atrophy and Challenges in Identifying the Etiology of Hypercortisolism: A Report of 2 Pediatric Cases Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-03-27 Elif Eviz, Gul Yesiltepe Mutlu, Ayfer Arduc Akcay, Fatih Erbey, Tulay Guran, Sukru Hatun
Introduction: Endogenous Cushing’s syndrome (CS) is a rare, severe disease that can cause multiple systemic involvement and behavioral problems due to excessive cortisol production. Structural changes can be noted in the brain magnetic resonance imaging (MRI) scans of these cases. Cases: A 9-year-old girl and a 13-year-old boy were admitted with hypercortisolism. In the female patient, altered consciousness
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Erratum Horm. Res. Paediatr. (IF 3.2) Pub Date : 2023-03-02 Stefano Cianfarani, Sociedade Latino-Americana de Endocrinologia Pediátrica (SLEP), European Society for Paediatric Endocrinology (ESPE), Paul Czernichow, Stefano Cianfarani, Moshe Phillip, Michel Polak, Raimo J. Voutilainen, Jan Maarten Wit, Olaf Hiort, Primus E. Mullis, Olle Söder, Joseph I. Wolfsdorf, Sharon E. Oberfield, Erik Allen Imel, Faisal Syed Ahmed, Mehul T. Dattani, Sergio Bernasconi, Olof
Horm Res Paediatr
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