Late diagnosis of a disorder of sex development, A simple but big medical fault. Missing a simple examination, late diagnosis of an adolescent with ۵ alpha reductase deficiency

Introduction: Deficiency of different enzymes has been found to affect sexual development. We report an adolescent with deficiency of ۵-α-reductase, a rare enzyme defect, a ۴۶,XY disorder of sexual development (DSD) inherited autosomal recessively, caused by mutations in the steroid ۵-α-reductase ۲ (SRD۵A۲) gene located on chromosome ۲p۲۳.Case presentation : A ۱۴-year-old patient was referred to our endocrinology clinic in Karaj with chief complaint of lack of secondary sexual characteristics of a female. She had been raised as a female and did not have any history of medical disorder. She was tall compared to her peers and had a course voice. In physical examination of her genitalia, two gonads were palpable in the proximal of the groin. Pubic hair was compatible with ۳th tanner stage, and a small phallus with penoscrotal hypospadias, without any sign of vagina were seen. Her parents claimed that they did not know anything about her abnormal genitalia until the examination in our clinic. Laboratory data showed elevated levels of testosterone, LH and FSH. The result of karyotype study showed a normal ۴۶ XY male, which was compatible with the report of sonography; The absence of mullerian duct and signs of a normal seminal vesicle and prostate. The scenario was compatible with a ۵-α-reductase deficiency or androgen insensitivity syndrome, with the higher probability of the former one. In Whole Exome Sequencing, a pathogenic homozygous variant in SRD۵A۲ was identified.After confirmation of the diagnosis, by counseling with the patient and his family, they accepted changing the gender, although the psychological burden of this decision is high in our society. Now he is under hormonal treatment and is satisfied with having a male gender in the rest of his life.Conclusion: Most of the DSDs are very rare and need hormonal analysis, sonographic and genetic study for determining the exact pathology. However the screening of them is very simple, by doing a genital examination in infancy or childhood periods which can lead to early diagnosis and prevent the psychiatric complications of the late diagnosis.

کلیدواژه ها:

۵-α-reductase deficiency ، Disorder of sexual development ، XY karyotype