SUN-211 Male Pseudohermaphroditism Due to 5α-Reductase-2 Deficiency

Abstract

BACKGROUND: In Salinas (mine salt) Dominican Republic we find a large population of Pseudo hermaphroditism due to 5α-reductase-2 deficiency. We present a case of a Transgender patient who was referred to us by a urologist surgeon for endocrine evaluation, since the patient wants to be a real male.CASE: Patient born on January 5, 1992 in Salinas (mine salt) Dominican Republic. Family history with same condition of ambiguous genitalia. When the little baby was born, the mother, knowing all the family cases, declared the baby a male but all the appearances were as female. CLINICAL FEATURES: Otherwise healthy patient 67", 188 lbs., temperature 36:1°C, BP 130/80, CR72 p.m., BR16 p.m., scrotal right testis 25 c.c. left testis 20 c.c. in the left inguinal channel. Clitoris enlargement as a micropenis and a dehiscence along with the meatus. No breast enlargement. No sexual intercourse (img 1-7). TESTS: basal ACTH 25.61 (NV: 4.7-48.8 pg/mL), basal cortisol 9.06 (NV: 6.0-18.4 µg/dL), Androstenedione 2.1 (NV:0.5-3.5 pg/mL), oestradiol 89.86 (NV:11.8-39.8 pg/mL), oestrogen 272 (NV: 40-115 pg/mL), FSH 9.17 (NV: 1.5-12.4 mIU/mL), LH 13.9 (NV: 1.7-8.6 mIU/mL), PRL 24.3 (NV: 5.3-22.2 ng/mL), testosterone 28.461 (NV: 12-32.2 nmol/L), dihydrotestosterone 0.7 (NV: 1.04-2.6 mmol/L), T/DHT 40.66 (NV: 12.3 +- 3.1) free testosterone 23.63 (NV: 4.25-30.37 pg/mL), DHEA-SO4: 365.1 (NV: 160/449 µg/dL), 17OH-Progesterone 2.37 (NV: 0.5-2.1 ng/mL), TSH 1.34 (NV: 0.27-4.2 µIU/mL), FT4 1.42 (NV: 0.93-1.71 ng/dL). Sonography: right scrotal testis 4.8 x 1.8 cm, left cryptorchids testis 4.0 x 1.3 cm (img 8), 46XY karyotype (img 9).CONCLUSIONS: This is a 46XY male with ambiguous genitalia, masculinization at puberty, normal total and free plasma testosterone, decreased plasma DHT, abnormal elevated testosterone/dihydrotestosterone ratio with some kindred affected family on a very know region in Salinas, Dominican Republic, with a diagnosis of male pseudo hermaphroditism due to 5α-reductase-2 deficiency who wants to be a true male with reconstructive surgery. To make crucial decisions over the proper diagnosis and specific therapy for pseudo-hermaphroditic transgender patients, a study of karyotype and complete evaluation of sexual hormones (reproductive/endocrine system) facilitates an adequate diagnosis and analysis. REFERENCES: Imperato-Mcginley, J., Peterson, R. E., Gautier, T., & Sturla, E. (1979). Male pseudohermaphroditism secondary to 5α-reductase deficiency—A model for the role of androgens in both the development of the male phenotype and the evolution of a male gender identity. Journal of Steroid Biochemistry, 11(1), 637-645. doi:10.1016/0022-4731(79)90093-1