Clinical profile, gender choice and long term follow up of subjects with 5 alpha-steroid reductase 2 deficiency
I. Shabir, M. Khurana, M. Eunice, B. Kulshreshtha, R. Khadgawat, N. Gupta, A. Ammini & D. Gupta
Introduction: 5 alpha-steroid reductase deficiency (5α SRD) is a rare autosomal recessive disorder. Presented here is the clinical profile and long term outcomes of subjects with 5α SRD examined in our hospital during the last 30 yrs.
Methods: Records of patients registered in the endocrine clinic of our hospital and new patients with diagnosis of 5α SRD were compiled. Details of history,physical examination,chromosomal analysis, hormonal studies, psychological assessment, nature of surgery and follow up were recorded.
Electrochemiluminiscence method was used for the estimation of LH,FSH and T. DHT was done by Radioimmunoassay (RIA)[kit based method (Immunotech, Prague)]after Celite chromatography.
Results: There were 30 patients, age 2 to 28 yrs (13.01±7.4) (from 27 families) were diagnosed to have 5α SRD during the last 31 years. One family had 4 boys, all with 5α RD. The mean age at which medical attention was sought was 5.6 yrs.
23 patients were assigned female sex while 7 patients were assigned male sex at birth. Among the 23 who were assigned female sex,11 sought medical attention peripubertally,10 opted for male gender re-assignment while 1 opted to continue her female gender status. Eleven patients received medical attention during infancy to early childhood, 9 had male gender assignment and 2 had female gender assignment on medical advice. One of them,11 years, reared as female is under evaluation. The 2 patients who had feminizing genitoplasty during infancy presented with gender dysphoria at age 8 and 11 years. One of them had gender reassignment after 2 years of follow up. Gender dysphoria was not observed among any of the children initially assigned male gender. Two patients are married, wife of one of them was pregnant at the last follow up. The second patient had normal LH, FSH and Testosterone at the initial evaluation. Semen analysis at age 16 revealed sperm count of 16 million/ml. He married at age 24, semen analysis at age 26 revealed azoospermia, elevated LH and FSH and subnormal testosterone.
Almost all patients who grew up as females without medical attention had opted for male gender assignment peripubertally. No gender dysphoria was observed among those reared as boys.
Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.
Funding: This research did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector.