ESPE Abstracts (2018) 89 P-P3-348

aDepartment of Women’s and Children’s Health, Karolinska Institutet, Stockholm, Sweden; bDepartment of Paediatric Endocrinology, Astrid Lindgren Children’s Hospital, Karolinska University Hospital, Stockholm, Sweden; cCentre for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden; dPaediatric Surgery, Astrid Lindgren Children’s Hospital, Karolinska University Hospital, Stockholm, Tajikistan; eDepartment of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden; fChild and Adolescent Psychiatry Research Centre, Stockholm, Sweden

We demonstrate significant penile growth in an infant with 17 beta HSD-deficiency treated with DHT-gel.

Background: The child was born with ambiguous genitalia at full term. Investigations revealed 46,XY karyotype, testosterone and DHT levels were 2.5 nmol/L and <0.1 nmol/L respectively. No female internal genitalia were found. hCG stimulation did not result in an increase in testosterone, but a clinically obvious increase in phallus size. Subsequent genetic analysis confirmed a 17-beta HSD-deficiency. The child was assigned male sex.

Methods: The penis measured 12 mm at 5 days of age. Local treatment with 2.5% DHT-gel, 0.2 ml daily was started and continued for 8 weeks all together, until the age of 4 months.

Results: After 2 months of therapy, the penis had grown to a length of 35 mm and a width of 12 mm.

Conclusions: We conclude that early treatment with locally applied DHT may have a significant effect on penile growth in 17-beta HSD deficiency.

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