5-Alpha-Reductase 2 Deficiency in a Woman with Primary Amenorrhea

Abstract

Steroid 5-alpha-reductase 2 deficiency is a rare disorder leading to male pseudohermaphroditism, a condition characterized by incomplete differentiation of male genitalia in 46,XY patients. Here, we report a case of a 21-year-old woman from Ardabil who presented with primary amenorrhea, ambiguous genitalia, and lack of breast development. All of the serum hormone profiles were normal except for raised serum total testosterone. Testosterone to DHT ratio (T/DHT) was elevated before (15.72) and further increased after hCG stimulation (32.46). A chromosomal study revealed a 46,XY karyotype. A bilateral gonadectomy, recessive cliteroplasty, urethroplasty, and vaginoplasty were performed and hormonal replacement therapy using estrogen was started. In conclusion, the diagnosis of 5-alpha-reductase 2 deficiency may be suspected in infants with ambiguous genitalia or in adolescents or young adults with the characteristic phenotype and serum hormone profiles.

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

“…6,7 However, measurement of the basal serum concentration and the testosterone/DHT ratio after puberty is usually sufficient for an accurate diagnosis of 5-α-reductase type 2 deficiency. 8 In the present case, the diagnosis of 5-α-reductase 2 type 2 deficiency was based on the patient's clinical presentation and a hormonal assay which revealed an abnormally elevated testosterone/DHT ratio of >60. Nevertheless, karyotyping and molecular studies are recommended to confirm a homozygous mutation of the SRD5A2 gene; unfortunately, this could not be performed in the current case.…”

5-α Reductase Deficiency in Two Siblings: A Case Report

“…However, certain genotypically male infants are born completely undervirilized and appear phenotypically female. In these situations, disorders of sexual differentiation are not diagnosed until puberty [3]. In the case discussed, the two sisters both presented to their endocrinologist with primary amenorrhea and were found to have the SRD5A2 gene mutation on chromosome 2, His231Arg.…”

“…Dihydrotestosterone (DHT) is a potent hormone that plays a crucial role in the development of male external genitalia [2]. Without DHT, one with a 46,XY karyotype may appear phenotypically female due to undervirilization [2,3]. DHT is a derivative of testosterone; the enzyme 5-α reductase type 2 is responsible for its conversion [4].…”

Disorders of sex development (DSD) 46.XY due to type 2 5-α reductase deficiency in three siblings: Case report from a low-resource setting

“…A delayed diagnosis leading to management only during early adulthood has been reported elsewhere. Maleki et al described managing a 21-year old type 2 5α-reductase deficient patient choosing to be a female [ 11 ]. She underwent bilateral gonadectomy, recessive cliteroplasty, urethroplasty and vaginoplasty and received hormonal replacement therapy (HRT) using low dose estrogen to develop the female sexual characteristics.…”