Faculté de Médecine d'Alger, Service de Pédiatrie, Centre Hospitalo-Universitaire Bad El Oued, 1 Boulevard Said Touati, Algiers, Algeria.
Section of Child Health, School of Medicine, Queen Elizabeth University Hospital, Govan Road, Glasgow, G51 4TF, United Kingdom.
Best Pract Res Clin Endocrinol Metab. 2019 Jun;33(3):101295. doi: 10.1016/j.beem.2019.101295. Epub 2019 Jul 12.
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.
原发性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一致的性发育障碍（DSD）。在男孩中，性腺功能衰竭的原因包括克氏综合征和其他非整倍体综合征、双侧隐睾、睾丸扭转以及部分雄激素不敏感等 46,XY DSD 形式。在女孩中，性腺功能衰竭的原因包括特纳综合征和其他非整倍体、半乳糖血症和自身免疫性卵巢功能衰竭。本文简要描述了睾丸和卵巢发育的生理学，接着介绍了男孩和女孩性腺损伤的原因和实际管理。然后给出了青春期诱导和青春期后激素替代的方案 - 男孩肌肉内、口服和透皮睾酮；女孩口服和透皮雌激素 - 最后讨论了当前和未来的辅助受孕和生育保存策略。
