Endocrine Abstracts

JOINT3214

Introduction: In developed countries, female patients with classic forms of congenital adrenal hyperplasia (CAH) are diagnosed at birth or in early childhood, allowing prompt treatment with correct gender assignment. The impact of late diagnosis or late interventions of CAH on gender identity, sexual orientation and function has been previously described. Hence, we-herein- describe an unusual case of an 18-year-old CAH girl with gender dysphoria and deciding to be a male.

Objective: To demonstrate the dilemma of gender identity in female CAH patients with delayed interventions due to social and cultural issues.

Case summary: An 18-year-old patient born to consanguineous parents had presented in a southern Egyptian city with persistent vomiting, electrolyte disturbance, atypical genitalia noticed since birth, and was diagnosed with salt-wasting congenital adrenal hyperplasia. Treatment with prednisolone and mineralocorticoid was started. No gonads were palpable, virilization Prader IV staging. Ultrasonography of the abdomen and pelvis was done showing uterus, no testes, bilateral ovaries. Due to social problems, the patient was lost to follow-up. At the age of 12.5 years, patient sought medical advice with breast enlargement and did laparoscopy showing female internal genitalia, and confirmed there were no testes. Before planning for surgery, the patient had his/her first menstrual cycle through a common urogenital sinus. They gave the decision to the patient after being reared for 11.5 years as a male, and his parents and they asked for doing bilateral salpingo-oophorectomy and hysterectomy at the age of 13 years. Hence, it was preferred to be an infertile male rather than a fertile female. Intramuscular testosterone was given for 3 months only for further virilization. The patient presented to us at the age of 18 years on subdose of prednisolone (1.4 mg/m² per day), stopped mineralocorticoid therapy since 5 years. On examination, she/he had short stature, Breast Tanner 5, penile hypospadias (not operated), SPL 6 cm, stria rubra, and chordae. Moreover, body image discomfort, depressive symptoms, and gender dysphoria.

Conclusion: Social and cultural issues play a major role in the management of female CAH patients, whether as physicians we agree with or disagree. Disregarding CAH patients’ clinical condition, and deprivation of medical care have major consequences psychologically and physically.