ESPE Abstracts (2016) 86 P-P2-424

Follow-up to Adulthood of Two 46,XY Siblings with 5-alpha Reductase Deficiency and Different Sex of Rearing

Lyne Chiniaraa, David Sandbergb & Guy Van Vlietc


aHospital for Sick Children/University of Toronto, Toronto, Ontario, Canada; bUniversity of Michigan, Ann Arbor, Michigan, USA; cSainte-Justine Hospital/Université de Montréal, Montreal, Quebec, Canada


Background: 46,XY patients with 5α-reductase deficiency (5-ARD), reared from birth as girls, are reported to self-reassign as boys subsequent to a masculinizing puberty; whether this holds true in cases of early orchidectomy is less well documented.

Objective and hypotheses: Prepubertal orchidectomy reduces the likelihood of gender self-reassignment.

Method: Presentation, management and outcome of two siblings with 5-ARD with narrative analysis of interviews with the mother.

Results: Sib 1 had typical female external genitalia at birth, but palpable gonads, 46,XY karyotype and absent uterus on ultrasound. Complete Androgen Insensitivity Syndrome (CAIS) was diagnosed and gender of rearing was female. Sib 2 had microphallus with chordee, proximal hypospadias, bilaterally palpable gonads and no Müllerian structures on ultrasound. Karyotype was 46,XY. Testosterone enanthate was given (50 mg then 100 mg), resulting in a phallic size of 3.0×1.4 cm and leading to a male gender rearing. Due to of Sib 2’s presentation, Sib 1’s diagnosis was revised to partial AIS. She was gonadectomized at 5 years and started estrogen replacement at 11. When they were 16 and 13 years, respectively, both sibs were found to be compound heterozygotes for mutations in SRD5A2 (Patients 50 and 51 in JCEM 96:296, 2011). At age 22, Sib 1 reported satisfactory peno-vaginal intercourse. Sib 2 entered puberty at age 11 and was G5P5 (penis 8×2 cm) at age 18. By age 18, both siblings were fully informed of their diagnosis. At ages 28 and 25, respectively, they are both living in a heterosexual relationship without apparent gender dysphoria.

Conclusion: Sib 1 had typical female external genitalia at birth, but palpable gonads, 46,XY karyotype and absent uterus on ultrasound. CAIS was diagnosed and gender of rearing was female. Sib 2 had microphallus with chordee, proximal hypospadias, bilaterally palpable gonads and no Müllerian structures on ultrasound. Karyotype was 46,XY. Testosterone enanthate was given (50 mg then 100 mg), resulting in a phallic size of 3.0×1.4 cm and leading to a male gender rearing. Due to of Sib 2’s presentation, Sib 1’s diagnosis was revised to partial AIS. She was gonadectomized at 5 years and started estrogen replacement at 11. When they were 16 and 13 years, respectively, both sibs were found to be compound heterozygotes for mutations in SRD5A2 (Patients 50 and 51 in JCEM 96:296, 2011). At age 22, Sib 1 reported satisfactory peno-vaginal intercourse. Sib 2 entered puberty at age 11 and was G5P5 (penis 8×2 cm) at age 18. By age 18, both siblings were fully informed of their diagnosis. At ages 28 and 25, respectively, they are both living in a heterosexual relationship without apparent gender dysphoria.

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