title: Homozygous p.R246Q Mutation and Impaired Spermatogenesis: Long Term Follow-up of 4 Children from One Family with 5 Alpha Reductase 2 Deficiency.
authors.affiliation: Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, 110029, India.
authors.forename: Iram
authors.initials: I
authors.lastname: Shabir
authors.affiliation: Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, 110029, India.
authors.forename: Madan L
authors.initials: ML
authors.lastname: Khurana
authors.affiliation: Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, 110029, India. marumudieunice@gmail.com.
authors.forename: Eunice
authors.initials: E
authors.lastname: Marumudi
authors.affiliation: Department of Psychiatry, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India.
authors.forename: Angela Ann
authors.initials: AA
authors.lastname: Joseph
authors.affiliation: Department of Psychiatry, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India.
authors.forename: Manju
authors.initials: M
authors.lastname: Mehta
authors.affiliation: Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, 110029, India.
authors.forename: Jomimol
authors.initials: J
authors.lastname: John
authors.affiliation: Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, 110029, India.
authors.forename: Ariachery C
authors.initials: AC
authors.lastname: Ammini
mesh_terms: D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase / Q000172:deficiency* / Q000235:genetics; D000328:Adult; D002648:Child; D042944:Cholestenone 5 alpha-Reductase / Q000235:genetics*; D003266:Continuity of Patient Care; D058490:Disorder of Sex Development, 46,XY / Q000235:genetics / Q000503:physiopathology / Q000523:psychology / Q000628:therapy; D005783:Gender Identity; D006720:Homozygote; D006801:Humans; D007021:Hypospadias / Q000235:genetics / Q000503:physiopathology / Q000523:psychology / Q000628:therapy; D008297:Male; D009154:Mutation; D009845:Oligospermia / Q000175:diagnosis / Q000209:etiology; D046468:Sexual Development / Q000235:genetics; D043202:Steroid Metabolism, Inborn Errors / Q000235:genetics / Q000503:physiopathology / Q000523:psychology / Q000628:therapy
chemical_list: D042944:Cholestenone 5 alpha-Reductase; D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase