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Endocrine Abstracts (2015) 39 OC2.2 | DOI: 10.1530/endoabs.39.OC2.2

BSPED2015 ORAL COMMUNICATIONS Oral Communications 2 (2 abstracts)

Inguinal hernia repair in a girl, a missed opportunity to diagnose 17β-HSD

Syed Furrukh Jamil 1, & Tim Cheetham 1,


1Darlington Memorial Hospital, Darlington, UK; 2Great North Children’s Hospital, Newcastle-upon-Tyne, UK.


17β-hydroxysteroid dehydrogenase deficiency (17β-HSD) is a rare autosomal recessive disorder of sexual development affecting testosterone biosynthesis. Affected individual typically present with genital ambiguity at birth, inguinal gonads or excessive virilisation at puberty in a phenotypic female.

Case: We present a case of a 14-year-old girl who was referred by the GP because of concerns about upper lip hair growth and deepening of her voice. She was born at term with no complications. She had an inguinal hernia repaired at age 6 but her past medical history was otherwise unremarkable.

Examination revealed no breast development, adult pattern pubic hair and clitromegally (B1 P4).

A deep voice, acne, and male habitus was noted. No gonads could be palpated in the inguinal canal.

Karyotype was 46,XY confirming 46,XY DSD and inguinal gonads were visualised on US with no Müllerian structures. Biochemical investigations demonstrated a normal steroid profile, pubertal LH and FSH and raised androstenedione to testosterone ratio, suggestive of 17β-HSD.

Our patient met with key members of the team including clinical psychology and subsequently opted to undergo bilateral gonadectomy and pubertal induction with exogenous oestrogen. The diagnosis of 17β-HSD was subsequently confirmed at the molecular level.

Conclusion: A girl with inguinal hernia requires a careful assessment and the operation note confirmed that when our patient had undergone hernia repair at 6 years a gonad had been identified. There is an argument for rearing the child with 17β-HSD diagnosed in the neonatal period as a male which highlights the potentially powerful impact of the environment on gender identity.

Volume 39

43rd Meeting of the British Society for Paediatric Endocrinology and Diabetes

British Society for Paediatric Endocrinology and Diabetes 

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