Identification of a Novel Mutation in an Iranian Family With ۱۷-β Hydroxysteroid Dehydrogenase Type ۳ Deficiency: A Case Series

Background: We presented the clinical and genetic features of a male ambiguity due to ۱۷-beta-hydroxysteroid dehydrogenase ۳ (۱۷B-HSD۳) deficiency. Methods: The proposita was an ۱۱-year-old girl and the first child of a consanguineous family. The external genitalia were completely female and had a short vaginal pouch. She had palpable gonads in her inguinal area and underwent bilateral gonadectomy at the age of two. At the age of ۱۰, she was referred to our clinic for more evaluation. In pelvic sonography, uterine and ovarian were not seen. Her karyotype was ۴۶, XY, and her LH and FSH levels were elevated, and three of the patient’s aunts and one of the mother’s aunts had similar signs. Conclusions: We identified a novel homozygous missense variation (c.۷۳۱T>A, p. Ile۲۴۴Lys) in the HSD۱۷B۳ gene. This alteration changes Isoleucine to Lysine in exon ۱۰.

Keywords:

۱۷-β-HSD۳ , Virilization , ۴۶ , XY , Iran