TLDR The girl's unexpected pubic hair growth led to a diagnosis different from complete androgen insensitivity syndrome.
A 9-year-old girl with labial fusion and undescended gonads was found to have a 46, XY karyotype and was provisionally diagnosed with complete androgen insensitivity syndrome (CAIS). However, at 13 years of age, she developed pubic hair, prompting further investigation. Laboratory tests showed abnormal steroid metabolite ratios and a high testosterone/DHT ratio after hCG stimulation, suggesting a different diagnosis than CAIS. The document poses questions regarding the differential diagnosis of an undervirilized genetic male, tests for investigating disorders of sex development (DSD), and the most probable diagnosis for the patient, indicating that the case study is used to explore DSD diagnostic approaches.
54 citations,
April 2010 in “Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism” Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
16 citations,
September 2008 in “Dermatologic Therapy” CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
101 citations,
April 1994 in “Baillière's clinical endocrinology and metabolism” 5α-reductase is essential for male sexual development and its inhibitors have potential in treating various conditions related to hormone action.
100 citations,
May 2011 in “Journal of Pediatric and Adolescent Gynecology” The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.
88 citations,
April 2017 in “Journal of Pediatric and Adolescent Gynecology” The document concludes that early diagnosis and treatment of Congenital Adrenal Hyperplasia are crucial for preventing serious health issues and improving patient outcomes.
