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Endocrine Abstracts (2023) 95 P127 | DOI: 10.1530/endoabs.95.P127

BSPED2023 Poster Presentations Gonadal, DSD and Reproduction 2 (10 abstracts)

Complexities of gender assignment in 17β-hydroxysteroid dehydrogenase type 3 deficiency

Maira Riaz , Mehrunnisa Yasir , Heeranand Rathor & Mohsina Ibrahim


National Institute of Child Health, Karachi, Pakistan


17-beta hydroxysteroid dehydrogenase 3 deficiency is a condition that affects male sexual development. People with this condition are genetically male, with gonads (testes) intact. Their bodies, however, do not produce enough testosterone. Testosterone has a critical role in male sexual development, and a shortage of this hormone disrupts the formation of the male phenotype of external genitalia before birth.

Case report: 12 years old, reared as girl, weighing 36 kg, follow up case of DSD. The patient first consulted medical advice at the age of 6 months for having right inguinal hernia. On examination female genitalia with right inguinal swelling which was tender. There Endocrine workup revealed bilateral Undescended testes (Rt measuring 1×0.4 cm and Lt 0.8×0.3 cm) and there was no evidence of uterus and ovaries. Her and chromosomal analysis showed 46 XY. The testosterone response to HCG was not conclusive (pre HCG <20, post HCG testosterone 20. After multiple sessions of counselling and discussion regarding gender of rearing the parents decided to continue her as a girl, so the testes removed surgically at the age of 1-year. Her genetic workup was done and came out to be homozygous positive for HSD17B3 variant gene which is responsible for 17 beta hydroxysteroid dehydrogenase deficiency. Her recent gonadotropins are very high (FSH is 157 mIU/mL and LH is 52.1 mIU/mL) and estrogen is low. Currently the girl is doing well on exogenous estrogen therapy. Her younger sibling having the similar problem is on list for genetic workup.

Conclusion: Although existing data are limited, early orchiectomy is likely to result in retention of female gender identity, avoiding the complications related to virilization in adolescence. As such, it is important to pursue a definitive diagnosis to guide clinical decisions, and to have the support and long term follow up with an inter-disciplinary disorders of sex development team.

Volume 95

50th Annual Meeting of the British Society for Paediatric Endocrinology and Diabetes

Manchester, UK
08 Nov 2023 - 10 Nov 2023

British Society for Paediatric Endocrinology and Diabetes 

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