Drop S L, Boehmer A L, Slijper F M, Nijman J M, Hazebroek F W, Niermeijer M F
Afd. Kindergeneeskunde, subafd. Endocrinologie, Academisch Ziekenhuis Rotterdam-Sophia Kinderziekenhuis, Postbus 2060, 3015 GJ Rotterdam.
Ned Tijdschr Geneeskd. 2001 Apr 7;145(14):665-9.
The importance of the secretion and action of androgens during the critical period of male sexual development is exemplified in patients with androgen insensitivity syndrome. Their karyotype is always 46XY. In 2 sisters, aged 11 and 13 years, the androgen insensitivity syndrome was diagnosed based on an androgen receptor gene mutation. Ambiguous genital development of a new-born was shown to be due to a lack of testosterone production, based on a luteinizing hormone receptor gene mutation. Finally, in a phenotypically female new-born a gene mutation of 17-beta hydroxysteroid dehydrogenase type 3 was found to be responsible for insufficient testosterone synthesis during embryonic development. The presentation of a patient, and specifically a neonate, with abnormal genital development represents a difficult diagnostic and therapeutic challenge. Referral to a centre with experience in the diagnosis and management of disorders of sexual development is advised where the emphasis should be on psychological and genetic counselling.
雄激素不敏感综合征患者体现了雄激素在男性性发育关键期分泌及作用的重要性。他们的核型始终为46XY。在两名分别为11岁和13岁的姐妹中，基于雄激素受体基因突变诊断出雄激素不敏感综合征。一名新生儿生殖器发育模糊，基于促黄体生成素受体基因突变显示这是由于睾酮分泌不足所致。最后，在一名表型为女性的新生儿中，发现3型17-β羟类固醇脱氢酶基因突变是胚胎发育期间睾酮合成不足的原因。一名患者，尤其是新生儿，出现生殖器发育异常代表着诊断和治疗方面的难题。建议转诊至在性发育障碍诊断和管理方面有经验的中心，重点应放在心理和遗传咨询上。
