Male Pseudohermaphroditism Due to Steroid 5α-Reductase 2 Deficiency Diagnosis, Psychological Evaluation, and Management

Abstract

Sixteen subjects (from 10 Brazilian families) with male pseudohermaphroditism due to steroid 5alpha-reductase 2 deficiency have been evaluated in 1 clinic. The diagnoses were made on the basis of normal plasma testosterone values, normal or low plasma dihydrotestosterone levels and high testosterone/dihydrotestosterone ratios in the basal state in postpubertal subjects or after treatment with either human chorionic gonadotropin or testosterone in prepubertal subjects. The analysis of the ratios of etiocholanolone to androsterone in urine confirmed the diagnosis in all subjects who were tested, and the molecular basis of the underlying mutations was established in 9 of the families. Fourteen of the individuals were evaluated by the same psychologist. All subjects but 1 were given a female sex assignment at birth. Three of the subjects (1 the sibling of an individual who has undergone female to male social behavior) maintain a female social sex; they have been gonadectomized and treated with exogenous estrogens. Ten of 13 subjects of postpubertal age underwent a change of social sex from female to male, had surgical correction of the hypospadias, and were treated with high-dose testosterone esters by parenteral injection and subsequently with dihydrotestosterone cream. These regimens brought serum dihydrotestosterone levels to the normal male range (or above) but resulted only in limited growth of the prostate and penis and, in some, increase in body and facial hair and enhancement of libido and sexual performance. Treatment of the prepubertal boys with testosterone and/or dihydrotestosterone resulted in a doubling of penis size.

Ambiguous Genitalia With Perineoscrotal Hypospadias in 46,XY Individuals: Long-Term Medical, Surgical, and Psychosexual Outcome

“…Some investigations do not provide precise physical descriptions of subjects to determine either cause underlying genital ambiguity or extent of androgen exposure during fetal development. 6 Other reports relate to subjects with 5␣-reductase deficiency 7,8 and 17␤-hydroxysteroid dehydro- …”

“…Some investigations do not provide precise physical descriptions of subjects to determine either cause underlying genital ambiguity or extent of androgen exposure during fetal development. 6 Other reports relate to subjects with 5␣-reductase deficiency 7,8 and 17␤-hydroxysteroid dehydro-genase deficiency. 9 In both of these conditions, the external genitalia are severely undermasculinized at birth but present partial virilization at puberty if the gonads remain in situ.…”

Late Diagnosis of 5-α-Reductase Type 2 Deficiency in an Adolescent Girl with Primary Amenorrhoea: Case report

“…4,7 Many 46,XY individuals raised as females will experience psychological difficulties during puberty, which results in most affected patients choosing to undergo gender reassignment to become male, as in the present case. [9][10][11] In such cases, either DHT or highdose testosterone therapy should be initiated so as to increase the size of the phallus. For patients diagnosed after infancy and whose gender identity is definitively female, a genitoplasty, prophylactic orchiectomy and oestrogen substitution therapy are recommended.…”

5-alpha-reductase deficiency: a case report

“…2,3,13,16,20,23 No risk factor or any clinical marker in There were labioscrotal folds (arrow) (E) with testes in palpation, micropenis with perineoscrotal hypospadia (arrow) (F) found in physical examination of the sister. Fig (G) The patient with his sister pregnancy are known.…”