ESPE Abstracts (2019) 92 P3-226

Rare Cause of 46,XY Sexual Development Disorder: 17β-Hydroxysteroid Dehydrogenase Type 3 Deficiency

Hayrullah Manyas1, Berna Eroğlu Filibeli1, İlkay Ayranci1, Merve Saka Güvenç2, Bumin Nuri Dündar3, Gönül Çatli3


1Health Sciences University İzmir Tepecik Training and Research Hospital Child Endocrinology Clinic, İzmir, Turkey. 2Health Sciences University İzmir Tepecik Training and Research Hospital, Genetic Diseases Diagnostic Center, İzmir, Turkey. 3İzmir Kâtip Çelebi University Faculty of Medicine, Department of Pediatric Endocrinology, İzmir, Turkey


Introduction: 17β-hydroxysteroid dehydrogenase type 3 (17βHSD3) enzyme deficiency is a rare cause of 46 XY disorder of sexual development. It is inherited autosomal recessively and clinical phenotype is highly heterogeneous and depends on the mutation severity. Conversion of androstenedione to testosterone deteriorates due to lack of enzyme.

Objective: In this case report, we present a case who was born entirely in the female phenotype and was grew up as a male sex after the diagnosis of 17βHSD3 deficiency.

Case: A 3 day old female patient was referred to us because of bilateral mass in the inguinal region. The patient was born by cesarean section 38 weeks of gestation with 3100g from a 39 year-old mother with type 2 diabetes mellitus. There was no disorder in the course of pregnancy. Parents were not consanguineous and her two sublings were exitus by 3 and 4 months of age. On physical examination, her weight was 3.3 kg (50p), height: 52 cm (75-90p), and head circumference was 34 cm (25-50p). Her genital examination revealed normal vagina and no cliteromegaly (Sinnecker stage 5)(Figure 1). The mass 1 ml (gonad?) in the bilateral inguinal region was palpated. An endocrinology study revealed 17 OH progesteron level 31 ng/dL (N,7-77), dihidrotestosteron 114,6 pg/mL (N,5-60), androstenedion 143,8 ng/dL (N,20-290), total testosteron 94,2 ng/dl (N,75-400), LH 11,3 IU/mL, FSH 2,2 IU/mL, low testosteron/androstenedion ratio: 0,65 (N>0,8). The karyotype revealed 46,XY. Pelvic ultrasonography showed the presence of testicles in inguinal canal and no ovaries or uterus was observed. 17βHSD3 deficiency was considered with clinical, radiological and laboratory findings. The genetic study confirmed the mutation p.R80Q (c.239G>A) on gene HSD17B3 in homozygosity. Multidisciplinary discussed and decided to raise the male sex and was treated with testosterone (IM) at 25mg/month for 4 months in order to increase size of phallus. In the sixth month of treatment, phallus size reached 3.5x1.5 cm (Figure 2). Patient underwent orchiopexy four times in 3, 5, 30 and 33 months of ages; had surgeries of vaginectomy, and correction of hypospadias and chordee at 26 months of age. Figure 3 and 4 show external genital images of the patient between 1.6 and 2.5 years of age.

Conclusion: 17βHSD3 deficiency cases are diagnosed late in the adolescent period due to virilization or delayed secondary sex characteristics. In early diagnosis, the decision to raise male gender in this cases is important for parents and patients in order to prevent future gender confusion.

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