Endocrine Abstracts

Introduction: 3-β-hydroxysteroid dehydrogenase (3BHSD) deficiency is a rare genetic disorder of steroid biosynthesis that results in decreased production of all three groups of adrenal steroids, which include mineralocorticoids, glucocorticoids, and sex steroids.

Case presentation: An infant was born with ambiguous genitalia in 1975 to a conservative Muslim family and was registered as male. The child was hospitalised with addisonian crisis on the eleventh day of life. Baby’s genotype was XY and was diagnosed as having 3β-HSD deficiency following a year of investigations due to the rarity of the condition. Prevailing medial expertise in this area in combination with inadequate growth of male sexual structures led to a decision to reregister and raise this child as a female at 18 months. There were difficulties in accepting this for the child’s conservative family especially as there was no involvement of the patient or of a wider multidisciplinary team. After a consensus was reached with the family the child underwent bilateral orchidectomy, phallidectomy with vulval plastic procedure (opened urogenital sinus to vaginal introitus) and initiation of Oestradiol supplementation at ages of 4, 10 and 12 respectively.

Current issues: The subject is now 45 years, she has overcome many serious infections and adrenal crises and is relatively healthy. However there is huge psychological burden in the form of being shy and reserved resulting in increasing social isolation, along with non-compliance to treatment. She continues to live with elderly parents and has a difficult and uncertain future.

Dilemma: Would this individual have done better if raised as a male?

Management: MDT meeting organised between adult Endocrinologist, Psychiatrist and Family to encourage and support her in the community in addition to medical management.

Discussion and conclusion: We believe that this lady’s psychological issues were at least partly related to the management approach adopted at the time of the diagnosis. This deviated from current practice of deferring final gender assignment (surgery, hormone replacement) until the child approaches the age of puberty. This also facilitates the participation of the child in informed decision-making. It is also crucial to involve multidisciplinary team especially psychosocial professionals early with regular follow up.