Correction of Gender Misassignment of an XY Female: Endocrine and Psychosocial Implications

Program: Abstracts - Orals, Poster Previews, and Posters
Session: SUN 176-202-Male Reproductive Endocrinology and Male Reproductive Tract (posters)
Bench to Bedside
Sunday, April 3, 2016: 1:15 PM-3:15 PM
Exhibit/Poster Hall (BCEC)

Poster Board SUN 177
Stanley Chen Cardenas*1 and Henry G Fein2
1Sinai Hospital of Baltimore, Baltimore, MD, 2Sinai Hospital and Johns Hopkins School of Medicine, Baltimore, MD
Background: The degree of masculinization of external genitals may not always reflect the prepartum masculinization of the brain (1).

A 24 y/o XY patient, born with ambiguous genitalia and reared female, presented for adult diabetes management. The patient was born at 36 weeks gestation with intrauterine growth retardation (weight 2.5 lb), undescended testes, and ambiguous genitalia of unclear etiology. The parents were advised to raise the child as a female. Orchiectomy was done at age 2; a vaginal pouch was created at age 5. Estrogen replacement began at age 11 but was self-stopped after 2 years due to increasing obesity. Type 2 Diabetes was diagnosed at age 19 (HbA1c 10.1%; nl <6.0). Low bone mass was found at age 20 (Z-score of AP spine: -2.3).  She was lost to endocrine follow up for the next 4 years.

At our initial evaluation, she reported that she was never attracted to men, identified as a lesbian but was never sexually active. She had a history of depression, dropped out of school and college several times and quit multiple jobs. Physical exam: normal vital signs, female appearing, 5 ft 4 in, 204 lb (BMI 34). Breasts at Tanner stage 5 with little subareolar tissue, female external genitalia. Labs: FSH 40.8 mIU/mL (luteal nl: 1.7-7.7) , LH 27.2 mIU/mL (luteal nl: 1.0-11.4), Estradiol 7.9 pg/mL (luteal nl: 43.8-211), Total Testosterone 31 ng/dL (male nl: 348-1197) , TSH 2.95 uIU/mL (0.45-4.50), HbA1c 6.8%. Z-score of AP spine: -2.6, femoral neck: -1.7, and total hip: -1.4. Denosumab (60 mg sc q6mo) was begun and hormonal replacement suggested but refused.

After 2 years, the patient chose to live as a man. Psychiatric evaluation in a sexual behavior consultation unit found gender dysphoria, major depressive disorder, error of sexual development, low self esteem, and lack of sufficient social support but found it appropriate to start testosterone.

The patient started Testosterone Cypionate 100mg IM q14d (4 doses) which was then increased to 200 mg IM q14d. He resumed college, became less shy, and libido increased. He feels attracted to women, his voice is deeper, he has mild acne and an increase in abdominal, facial and leg hair. He plans to legally change his name to a masculine one and is considering plastic surgery on his genitals. 

Discussion: An etiology can be identified in less than half of XY newborns with ambiguous genitalia. The literature has recommended that generally such patients should be reared as female (2), although there are permanent changes in structures of the brain due to prenatal exposure to androgens (1). This patient demonstrates medical and psychosocial challenges that may result.

Conclusion: It may be more appropriate to raise XY children as male regardless of the appearance of their external genitalia.

(1)  Swaab D. F. & Garcia-Falgueras A. Sexual differentiation of the human brain in relation to gender identity and sexual orientation. Functional Neurology. 2009 ; 24: 17-28.(2) Rey R. A. & Josso N. Diagnosis and Treatment of Disorders of Sexual Development. J. L Jameson, De Groot L. Endocrinology Adult and Pediatric. 7th Edition, 2015.

Nothing to Disclose: SCC, HGF

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