Etiology, histology and long-term outcome of bilateral testicular regression: a large Belgian series

Abstract

406 following case report aims at showing the phenotypic features of this mutation with novel association with atypical genitalia. Case Presentation: A 3-year-old boy presented to Pediatric Endocrinology clinic at Alexandria University Hospitals. His parents sought surgical consultation due to bilateral arrested testes (inguinal) and small sized penis. On clinical examination, external genitalia showed micropenis and bilateral palpable mid-inguinal testes (average sized for age). Furthermore, extragenital examination showed frontal bossing, fine sparse hair, thin fine eyebrows, brittle nails and conical shaped teeth. He had normal sweating and hearing. As a rare presentation of atypical genitalia, hormonal profile before and after HCG stimulation showed normal testosterone response with high testosterone/ dihydrotestosterone ratio. Inguinoscrotal ultrasonography showed average size and vascular-ity of both inguinal testes. Whole genome sequencing showed ectodermal dysplasia 14, hair/tooth type with or without hypohi-drosis (OMIM: 618180) as homozygous mutation of TSPEAR gene. Conclusion: Atypical genitalia is a novel association with ecto-dermal dysplasia which needs multidisciplinary team management including pediatric surgery, endocrinology, endodontics, dermatology and psychology.