A 5-year-old boy with cryptorchidism and pubic hair: investigation and management of apparent male disorders of sex development in mid-childhood

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)

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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

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