PDF(Pubmed)
Abstract：
The term \'differences of sex development\' (DSD) refers to a group of congenital conditions that are associated with atypical development of chromosomal, gonadal, and/or anatomical sex. DSD in individuals with a 46,XX karyotype can occur due to fetal or postnatal exposure to elevated amount of androgens or maldevelopment of internal genitalia. Clinical phenotype could be quite variable and for this reason these conditions could be diagnosed at birth, in newborns with atypical genitalia, but also even later in life, due to progressive virilization during adolescence, or pubertal delay. Understand the physiological development and the molecular bases of gonadal and adrenal structures is crucial to determine the diagnosis and best management and treatment for these patients. The most common cause of DSD in 46,XX newborns is congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, determining primary adrenal insufficiency and androgen excess. In this review we will focus on the other rare causes of 46,XX DSD, outside CAH, summarizing the most relevant data on genetic, clinical aspects, puberty and fertility outcomes of these rare diseases.
摘要：
术语“性别发育差异”（DSD）是指与染色体非典型发育有关的一组先天性疾病，性腺,和/或解剖学性别。DSD在具有46,XX核型的个体中可由于胎儿或出生后暴露于升高量的雄激素或内生殖器发育不良而发生。临床表型可能变化很大，因此这些疾病可以在出生时被诊断出来，患有非典型生殖器的新生儿，甚至在以后的生活中，由于青春期的进行性男性化，或青春期延迟。了解性腺和肾上腺结构的生理发育和分子基础对于确定这些患者的诊断和最佳管理和治疗至关重要。46,XX新生儿DSD最常见的原因是21-羟化酶缺乏症导致的先天性肾上腺增生(CAH),确定原发性肾上腺功能不全和雄激素过量。在这篇综述中，我们将重点关注46，XXDSD的其他罕见原因，在CAH外面，总结遗传上最相关的数据，临床方面，这些罕见疾病的青春期和生育结果。
