The term primary gonadal failure encompasses not only testicular insufficiency in 46,XY males and ovarian insufficiency in 46,XX females, but also those disorders of sex development (DSD) which result in gender assignment that is at variance with the genotype and gonadal type. In boys, causes of gonadal failure include Klinefelter and other aneuploidy syndromes, bilateral cryptorchidism, testicular torsion, and forms of 46,XY DSD such as partial androgen insensitivity. Causes in girls include Turner syndrome and other aneuploidies, galactosemia, and autoimmune ovarian failure. Iatrogenic causes in both boys and girls include the late effects of childhood cancer treatment, total body irradiation prior to bone marrow transplantation, and iron overload in transfusion-dependent thalassaemia. In this paper, a brief description of the physiology of testicular and ovarian development is followed by a section on the causes and practical management of gonadal impairment in boys and girls. Protocols for pubertal induction and post-pubertal hormone replacement - intramuscular, oral and transdermal testosterone in boys; oral and transdermal oestrogen in girls - are then given. Finally, current and future strategies for assisted conception and fertility preservation are discussed.

中文翻译：

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原发性腺功能衰竭。

术语“原发性腺功能衰竭”不仅包括46，XY男性的睾丸功能不全和46，XX女性的卵巢功能不全，还包括那些导致性别分配与基因型和性腺类型不同的性别发育障碍（DSD）。在男孩中，性腺衰竭的原因包括Klinefelter和其他非整倍性综合征，双侧隐睾，睾丸扭转和46，XY DSD形式，例如部分雄激素不敏感。女孩的病因包括特纳综合征和其他非整倍性，半乳糖血症和自身免疫性卵巢衰竭。男孩和女孩的医源性原因包括儿童期癌症治疗的后期影响，骨髓移植之前的全身照射以及输血依赖性地中海贫血中的铁超载。在本文中，在简要描述睾丸和卵巢发育的生理学之后，接着是关于男孩和女孩的性腺损害的原因和实际处理的章节。青春期诱导和青春期后激素替代的方案-男孩的肌肉内，口服和经皮睾丸激素; 然后给女孩口服和经皮雌激素-然后服用。最后，讨论了辅助受孕和生育力保护的当前和未来策略。