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Growth hormone deficiency in a child with branchio‐oto‐renal spectrum disorder: Clinical evidence of EYA1 in pituitary development and a recommendation for pituitary function surveillance
American Journal of Medical Genetics Part A ( IF 2 ) Pub Date : 2020-10-24 , DOI: 10.1002/ajmg.a.61942 Karthik Muthusamy 1 , Christian Hanna 2 , Derek R Johnson 3, 4 , Carl H Cramer 2 , Peter J Tebben 5 , Sharon E Libi 6 , Gayla L Poling 6 , Brendan C Lanpher 1 , Eva Morava 1, 7, 8 , Lisa A Schimmenti 1, 6, 8, 9
American Journal of Medical Genetics Part A ( IF 2 ) Pub Date : 2020-10-24 , DOI: 10.1002/ajmg.a.61942 Karthik Muthusamy 1 , Christian Hanna 2 , Derek R Johnson 3, 4 , Carl H Cramer 2 , Peter J Tebben 5 , Sharon E Libi 6 , Gayla L Poling 6 , Brendan C Lanpher 1 , Eva Morava 1, 7, 8 , Lisa A Schimmenti 1, 6, 8, 9
Affiliation
Branchio‐oto‐renal spectrum disorder (BORSD) is a rare autosomal dominant condition characterized by ear abnormalities with hard of hearing/deafness, second branchial arch malformations and renal anomalies. Pathogenic variations in EYA1 gene are found in the majority of clinically diagnosed individuals with BORSD. We describe an infant with BORSD related to a paternally inherited heterozygous pathogenic variation in EYA1 gene presenting with poor growth and hypoglycemia due to growth hormone deficiency. Magnetic resonance imaging revealed a diminutive pituitary gland and morphologically abnormal sella. Upon initiation of growth hormone therapy, the hypoglycemia resolved and catch up growth ensued. Pituitary abnormalities have not been reported previously in patients with BORSD. The zebrafish ortholog of eya1 is important for the development of adenohypophysis, suggesting that this patient's growth hormone deficiency and pituitary abnormality are part of BORSD. Inclusion of screening for pituitary hormone deficiency and pituitary imaging should be considered as a part of surveillance in patients with BORSD.
中文翻译:
患有分支-耳-肾频谱疾病的儿童的生长激素缺乏症:垂体发育中EYA1的临床证据和垂体功能监测的建议
耳-耳-肾光谱异常(BORSD)是一种罕见的常染色体显性疾病,其特征是耳朵异常,听觉/耳聋,第二分支弓畸形和肾脏异常。在大多数临床诊断的BORSD患者中发现了EYA1基因的致病变异。我们描述BORSD婴儿相关的父系遗传杂致病变异EYA1由于生长激素缺乏而导致基因生长不良和低血糖的基因。磁共振成像显示垂体小腺体和形态异常的蝶鞍。开始生长激素治疗后,低血糖症消退并随后追赶了生长。先前尚未有BORSD患者的垂体异常报道。eya1的斑马鱼直系同源物对于腺垂体的发展很重要,表明该患者的生长激素缺乏和垂体异常是BORSD的一部分。对BORSD患者的筛查应包括筛查垂体激素缺乏症和垂体影像学。
更新日期:2020-12-17
中文翻译:
患有分支-耳-肾频谱疾病的儿童的生长激素缺乏症:垂体发育中EYA1的临床证据和垂体功能监测的建议
耳-耳-肾光谱异常(BORSD)是一种罕见的常染色体显性疾病,其特征是耳朵异常,听觉/耳聋,第二分支弓畸形和肾脏异常。在大多数临床诊断的BORSD患者中发现了EYA1基因的致病变异。我们描述BORSD婴儿相关的父系遗传杂致病变异EYA1由于生长激素缺乏而导致基因生长不良和低血糖的基因。磁共振成像显示垂体小腺体和形态异常的蝶鞍。开始生长激素治疗后,低血糖症消退并随后追赶了生长。先前尚未有BORSD患者的垂体异常报道。eya1的斑马鱼直系同源物对于腺垂体的发展很重要,表明该患者的生长激素缺乏和垂体异常是BORSD的一部分。对BORSD患者的筛查应包括筛查垂体激素缺乏症和垂体影像学。