A 5-year-old boy with cryptorchidism and pubic hair: investigation and management of apparent male disorders of sex development in mid-childhood.
BACKGROUND
Late presentation of congenital adrenal hyperplasia as a 46,XX disorder of sex development due to 11-beta hydroxylase deficiency is uncommon. Such a case raises issues regarding appropriate investigation and management.


METHODS
A 5-year-old boy who had recently moved to the United Kingdom presented at the endocrinology clinic with recurrent abdominal pain. He was normotensive and had a history of ambiguous genitalia since birth, a relatively small penis, bilateral cryptorchidism and pubic hair. A systematic workup revealed low anti-Mullerian hormone levels for age and sex and elevated serum testosterone, androstenedione and deoxycortisol levels. A urinary steroid profile confirmed a diagnosis of 11-beta hydroxylase deficiency. The child's karyotype was 46,XX. Further genetic analysis revealed a compound heterozygote mutation in the CYP11B1 gene. Ultrasound scan showed evidence of Mullerian structures and accumulation of menstrual blood in the vagina (haematocolpos). Following discussion at a multidisciplinary clinic, the patient did not undergo sex reassignment and subsequently proceeded to surgery for removal of the Mullerian structures.


CONCLUSIONS
This case emphasizes the importance of a systematic approach to investigation of older children presenting with apparent male undermasculinisation. It also raises important issues about gender reassignment in mid-childhood and the indications for removal of Mullerian organs in a 46,XX boy.
Keir
L S
LS
Scottish Genital Anomaly Network, Yorkhill, Glasgow, UK. lskeir@doctors.org.uk
O'Toole
S
S
Robertson
A L
AL
Wallace
A M
AM
Ahmed
S F
SF
D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000503:physiopathology; D000367:Age Factors; D002675:Child, Preschool; D003456:Cryptorchidism / Q000150:complications / Q000175:diagnosis* / Q000628:therapy*; D003937:Diagnosis, Differential; D012734:Disorders of Sex Development / Q000175:diagnosis* / Q000503:physiopathology; D006197:Hair / Q000503:physiopathology; D006801:Humans; D008297:Male; D010384:Pelvic Bones