46 XX DSD (masculinized female)
Prader classification of CAH, from Campbell's
Congenital adrenal hyperplasia (CAH)
- Patients may have salt-wasting, virilization, or neither
- Salt-wasting may cause severe vomiting and can be mistaken for pyloric stenosis
- Female infants present with virilization, male infants present with precocious puberty
- 21a-hydroxylase: elevated progesterone and 12-hydroxyprogesterone
- 11B-hydroxylase: elevated 11-deoxycortisol, 11-DOC
- Adrenal glands have cerebriform appearance
- Adrenal rest tumors may occur in male patients and can cause infertility, require annual testicular US for screening
- Management: glucocorticoid replacement, can pretreat with dexamethasone if diagnosed prenatally, surgical reconstruction depends on individual situation
- (Typical) surgical management: urethroplasty/vaginoplasty (create separate openings), clitoroplasty (reduce masculinized clitoris), vulvoplasty/labioplasty (define external genitalia)
External hormone production
- Be careful of materal administration of progesterone, danazol
- Virilizing tumors are rare
References
- AUA Core Curriculum
- Baskin, Laurence S. Handbook of pediatric urology. Lippincott Williams & Wilkins, 2018.
- Rink, R. "Surgical Management of Differences of Sexual Differentiation and Cloacal and Anorectal Malformations." Campbell-Walsh Urology 12 (2020).
- Yu, R. and D. Diamond. "Disorders of Sexual Development: Etiology, Evaluation, and Medical Management." Campbell-Walsh Urology 12 (2020).