Keir, L.S., O'Toole, S., Robertson, A., Wallace, A.J. and Ahmed, S.F. (2009) A 5-year-old boy with cryptorchidism and pubic hair: investigation and management of apparent male disorders of sex development in mid-childhood. Hormone Research in Paediatrics, 71(Supple), pp. 87-92. (doi: 10.1159/000178046)
Full text not currently available from Enlighten.
Abstract
Background: Late presentation of congenital adrenal hyperplasia as a 46,XX disorder of sex development due to 11-β hydroxylase deficiency is uncommon. Such a case raises issues regarding appropriate investigation and management. Case History: 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-β 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
Item Type: | Articles |
---|---|
Status: | Published |
Refereed: | Yes |
Glasgow Author(s) Enlighten ID: | Robertson, Dr Andrew and Wallace, Ms Alison and O'Toole, Mr Stuart and Ahmed, Professor Syed Faisal |
Authors: | Keir, L.S., O'Toole, S., Robertson, A., Wallace, A.J., and Ahmed, S.F. |
College/School: | College of Medical Veterinary and Life Sciences |
Journal Name: | Hormone Research in Paediatrics |
Journal Abbr.: | Horm. Res. Paediatr. |
ISSN: | 1663-2818 |
ISSN (Online): | 1663-2826 |
Published Online: | 21 January 2009 |
University Staff: Request a correction | Enlighten Editors: Update this record