[Male pseudo-hermaphroditism due to partial 5 alpha-reductase deficiency, a case report]. 2001

S Hédia, and S Mohamed, and H A Insaf, and G Houda, and F Yamina, and K Myrvat, and H Maria, and H Ali
Service de Médecine Interne B E.P.S Charles Nicolle, Tunis.

Male pseudo hermaphroditism caused by steroid 5 alpha reductase deficiency is a rare autosomal recessive disorder. This enzyme catalyses the conversion of testosterone to dihydrotestosterone (DHT) in genital tissue. The potent androgen DHT is required for full masculinization of the external genitalia hence, masculinization defects of varying degree result from diminished DHT formation. We report a Tunisian patient who was raised as a girl, presented to us at the age of 15, because male phenotype had become predominant at puberty. Endocrinological investigations revealed an in crease in the ratio serum testosterone/DHT = 17. Treatment with dihydrotestosterone and surgical correction, after psychological evaluation permitted the change of gender identity to male.

UI MeSH Term Description Entries
D008297 Male Males
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D011627 Puberty A period in the human life in which the development of the hypothalamic-pituitary-gonadal system takes place and reaches full maturity. The onset of synchronized endocrine events in puberty lead to the capacity for reproduction (FERTILITY), development of secondary SEX CHARACTERISTICS, and other changes seen in ADOLESCENT DEVELOPMENT. Puberties
D005808 Genes, Recessive Genes that influence the PHENOTYPE only in the homozygous state. Conditions, Recessive Genetic,Genetic Conditions, Recessive,Recessive Genetic Conditions,Condition, Recessive Genetic,Gene, Recessive,Genetic Condition, Recessive,Recessive Gene,Recessive Genes,Recessive Genetic Condition
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D012734 Disorders of Sex Development In gonochoristic organisms, congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Effects from exposure to abnormal levels of GONADAL HORMONES in the maternal environment, or disruption of the function of those hormones by ENDOCRINE DISRUPTORS are included. Disorders of Sexual Development,Sex Development Disorders,Sex Differentiation Disorders,Ambiguous Genitalia,Genital Ambiguity,Hermaphroditism,Intersex Conditions,Intersexuality,Pseudohermaphroditism,Sexual Development Disorders,Sexual Differentiation Disorders,Ambiguities, Genital,Ambiguity, Genital,Condition, Intersex,Conditions, Intersex,Differentiation Disorder, Sex,Differentiation Disorder, Sexual,Differentiation Disorders, Sex,Differentiation Disorders, Sexual,Disorder, Sex Differentiation,Disorder, Sexual Differentiation,Disorders, Sex Differentiation,Disorders, Sexual Differentiation,Genital Ambiguities,Genitalia, Ambiguous,Intersex Condition,Intersexualities,Sex Development Disorder,Sex Differentiation Disorder,Sexual Development Disorder,Sexual Differentiation Disorder
D013196 Dihydrotestosterone A potent androgenic metabolite of TESTOSTERONE. It is produced by the action of the enzyme 3-OXO-5-ALPHA-STEROID 4-DEHYDROGENASE. 5 alpha-Dihydrotestosterone,Androstanolone,Stanolone,17 beta-Hydroxy-5 beta-Androstan-3-One,17beta-Hydroxy-5alpha-Androstan-3-One,5 beta-Dihydrotestosterone,5-alpha Dihydrotestosterone,5-alpha-DHT,Anaprotin,Andractim,Dihydroepitestosterone,Gelovit,17 beta Hydroxy 5 beta Androstan 3 One,17beta Hydroxy 5alpha Androstan 3 One,5 alpha DHT,5 alpha Dihydrotestosterone,5 beta Dihydrotestosterone,Dihydrotestosterone, 5-alpha,beta-Hydroxy-5 beta-Androstan-3-One, 17
D013739 Testosterone A potent androgenic steroid and major product secreted by the LEYDIG CELLS of the TESTIS. Its production is stimulated by LUTEINIZING HORMONE from the PITUITARY GLAND. In turn, testosterone exerts feedback control of the pituitary LH and FSH secretion. Depending on the tissues, testosterone can be further converted to DIHYDROTESTOSTERONE or ESTRADIOL. 17-beta-Hydroxy-4-Androsten-3-one,17-beta-Hydroxy-8 alpha-4-Androsten-3-one,8-Isotestosterone,AndroGel,Androderm,Andropatch,Androtop,Histerone,Sterotate,Sustanon,Testim,Testoderm,Testolin,Testopel,Testosterone Sulfate,17 beta Hydroxy 4 Androsten 3 one,17 beta Hydroxy 8 alpha 4 Androsten 3 one,8 Isotestosterone
D013741 3-Oxo-5-alpha-Steroid 4-Dehydrogenase An enzyme that catalyzes the reduction of TESTOSTERONE to 5-ALPHA DIHYDROTESTOSTERONE. 3-Keto-5-alpha-Steroid delta-4-Dehydrogenase,5-alpha-Reductase, Testosterone,Testosterone 5-alpha-Reductase,Testosterone delta-4-5-alpha-Reductase,3-oxo-5 alpha-Steroid 4-Dehydrogenase (NADP+),3-oxo-5alpha-Steroid 4-Dehydrogenase (NADP+),4-Ene-3-Oxosteroid-5alpha-Reductase,4-Ene-5-alpha-Reductase,NADH-5-alpha-Reductase,NADPH delta(4)-3-Ketosteroid 5 alpha-Oxidoreductase,Steroid 5-alpha-Reductase,Steroid 5Alpha Reductase,Steroid delta-4-5-alpha Reductase,delta 4-3-keto Steroid 5 alpha-Oxidoreductase,delta(4)-3-Ketosteroid-5alpha-Reductase,delta4-3-ketosteroid 5alpha-Oxidoreductase,3 Keto 5 alpha Steroid delta 4 Dehydrogenase,3 Oxo 5 alpha Steroid 4 Dehydrogenase,4 Ene 3 Oxosteroid 5alpha Reductase,4 Ene 5 alpha Reductase,5 alpha Reductase, Testosterone,5-alpha-Reductase, Steroid,5Alpha Reductase, Steroid,5alpha-Oxidoreductase, delta4-3-ketosteroid,NADH 5 alpha Reductase,Reductase, Steroid 5Alpha,Reductase, Steroid delta-4-5-alpha,Steroid 5 alpha Reductase,Steroid delta 4 5 alpha Reductase,Testosterone 5 alpha Reductase,Testosterone delta 4 5 alpha Reductase,delta 4 3 keto Steroid 5 alpha Oxidoreductase,delta-4-5-alpha Reductase, Steroid,delta-4-5-alpha-Reductase, Testosterone,delta-4-Dehydrogenase, 3-Keto-5-alpha-Steroid,delta4 3 ketosteroid 5alpha Oxidoreductase

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