Endocrine Abstracts

Introduction: Congenital adrenal hyperplasia (CAH) is a prevalent disturb in female to male gender identity disorder (GID). However, psychoendocrinology of GID is not yet fully understood.

Case Report: A 22-year-old patient(46, XX), was sent from Psychiatry-Sexology to Endocrinology consultation for GID to start hormonal treatment. Self-awareness as a male began at 12-year-old. Menarche at the age of 13 years. At 14-year-old, it was noticed overgrowth of terminal hair with male pattern. Since 16-year-old with oligomenorrhea. No history of previous hormonal therapy. On physical examination, signs of virilization - hirsutism (Ferriman Gallwey scale score: 32), clitoromegaly and deep voice - and android obesity (W=106 Kg, H=1.80 m, BMI=32.7 Kg/m²). Laboratory assays showed increased 17 OH-progesterone (8.3 ng/ml (0.42–3.5)), androstenedione (9.59 ng/ml (0.6–3.1)) and ACTH (157.1 ng/l (<13.3)) levels. Total testosterone, SHBG and DHEA-s were in the normal range for females. Pelvic ultrasound documented increased ovary size with multiple bilateral peripheral millimetric cysts. Synacthen test confirmed the diagnosis of CAH (17-OH progesterone>10 ng/ml (30.5) 60 min after tetracosactide), excluding cortisol deficiency. Molecular study of 21-hydroxylase genes enabled the detection of a mutation c.290-13 (A / C> G) in heterozygosity, and P. Val281Leu in homozygosity in CYP21A2 gene, confirming the diagnosis. The patient began hormonal therapy with testosterone enanthate (250 mg IM every 4 weeks) to optimize the phenotype and achieve male physiological levels of testosterone.

Discussion and Conclusion: According to the genotype-phenotype correlations described in the 21-hydroxylase deficiency, it was expected that these combinations of mutations were associated with a non-classical variant of the disease, being unexpected this severe virilizide presentation. It can be questioned if this deficiency may have conditioned the GID and whether an earlier diagnosis and timely hormonal treatment could have influenced the disturbance.