Endocrine Abstracts

Introduction: DSD is a group of disorders by which there is discrepancy between genomic sex and phenotypical sex. Most of cases of DSD are picked up during neonatal period due to ambiguous genitalia. Few cases are diagnosed in adolescence or even at puberty due to various causes like mild ambiguity, complete phenotype sex reversal, lack of breast development and primary amenorrhea, we review a case of 46XX CAH girl due to CYP21 hydroxylase deficiency which was diagnosed late at the age of 13 and the implication of late diagnosis on disease control, mental and sexual aspects.

Methods: 13-year-old female presented with progressive features of virilization started at the age of 10 including deepening of the voice, muscular features, severe hirsutism modified Ferriman-Gallwey Score 4, absence of breast, balding, ambiguous genitalia (grade 2 Prader) She is a daughter of consanguineous marriage. She has no depressive symptoms and perceive her self as a female but she is sexually attracted to females. Labs Diagnosis of 21 hydroxylase deficiency (simple virilizing form) with no features of cortisol deficiency, we started steroid replacement as hydrocortisone. No satisfactory response clinically to steroid after 6 months of treatment, patient gained weight so decided to stop medication and lost to follow up, she came again 2 years later but she refused steroid so I started potent anti androgen (Flutamide)250 mg once daily Plus COC, withdrawal bleeding occurred after 3 cycles, mild improvement in Hirsutism and psychological wellbeing after 6 months of treatment. However, her sex orientation didn’t change raising the question about the impact of long exposure of the brain to androgens and highlight the concept of brain virilization.

Conclusion: Current available therapies of CAH have limitations and difficult to balance the hyperandrogenism hypercortisolism arms, the effect of long-term exposure of the brain to androgens should be widely investigated in terms of gender identity, gender role and sex orientation and whether the available therapies address or reverse these issues.