17-Alpha Hydroxylase Deficiency: A Case Series

potential. Surgical management: Decision to perform feminizing vs. masculinizing surgery is influenced by the degree of masculinization of the external genitalia and the projected effectiveness of sex assignment including functionality and potential for future fertility. In XY gonadal dysgenesis, surgery should be considered in cases of severe virilization and be performed in conjunction, when appropriate, with repair of the common urogenital sinus. A second surgery to create a functional vagina should be performed after puberty when the patient is motivated to self-dilate and/or is sexually active. FSH and hCG stimulation tests suggestive of ovotestes avoid gonadal biopsy; dysgenetic gonads can be removed after puberty when the risk of malignant transformation is relevant. Hormone replacement therapy: HRT should mimic endogenous hormone production in normal adolescent females. Initiate therapy around age 12 to achieve breast development, support maturation of secondary sex characteristics, and attain optimal bone density. Start with a low dose estrogen; double dose at 3 to 6 months and again 3 months later. After 2 years of unopposed estrogen therapy, add progesterone to achieve optimal breast development irrespective of the presence or absence of a uterus. Treatment should continue until the expected age of menopause. Androgen therapy is not indicated. Discussion: XY gonadal dysgenesis invariably leads to female sex assignment however, the cases presented illustrate potential diagnostic and management difficulties. Systematic laboratory testing and imaging allow early diagnosis and minimize patient and parental frustration. Appropriately timed surgeries minimize the need for additional corrective procedures so that functionality is maximized. Non-surgical diagnostic modalities are consistent with new approaches that seek less invasive interventions. Appropriately timed HRT results in satisfactory development of secondary sex characteristics and minimizes the psychosocial stressors patients face.