The english version of the website of the School of Medicine is under development

Δημοσίευση

46,XY Disorder of Sex Development due to 17-Beta Hydroxysteroid Dehydrogenase Type 3 Deficiency in an Infant of Greek Origin.

Title46,XY Disorder of Sex Development due to 17-Beta Hydroxysteroid Dehydrogenase Type 3 Deficiency in an Infant of Greek Origin.
Publication TypeJournal Article
Year of Publication2018
AuthorsGalli-Tsinopoulou, A., Serbis A., Kotanidou E. P., Litou E., Dokousli V., Mouzaki K., Fanis P., Neocleous V., & Skordis N.
JournalJ Clin Res Pediatr Endocrinol
Volume10
Issue1
Pagination74-78
Date Published2018 Mar 01
ISSN1308-5735
Keywords17-Hydroxysteroid Dehydrogenases, 46, XY Disorders of Sex Development, Greece, Gynecomastia, Humans, Infant, Newborn, Male, Steroid Metabolism, Inborn Errors
Abstract

17-beta hydroxysteroid dehydrogenase type 3 (17βHSD-3) enzyme catalyzes the conversion of androstenedione (Δ4) to testosterone (T) in the testes of the developing fetus, thus playing a crucial role in the differentiation of the gonads and in establishing the male sex phenotype. Any mutation in the encoding gene (HSD17B3) can lead to varying degrees of undervirilization of the affected male, ranging from completely undervirilized external female genitalia to predominantly male with micropenis and hypospadias. We present here an infant who was referred to our clinic because of ambiguous genitalia at birth. Gonads were palpable in the inguinal canal bilaterally and no Müllerian structures were identified on pelvic ultrasound. Because of a low T/Δ4 ratio after a human chorionic gonadotropin stimulation test, a tentative diagnosis of 17βHSD-3 deficiency was made which was confirmed after genetic analysis of the HSD17B3 gene of the patient. The molecular analysis identified compound heterozygosity of two previously described mutations and could offer some further validation for the idea of a founder effect for 655-1;G→A mutation in the Greek population.

DOI10.4274/jcrpe.4829
Alternate JournalJ Clin Res Pediatr Endocrinol
PubMed ID28739554
PubMed Central IDPMC5838376

Contact

Secretariat of the School of Medicine
 

Connect

School of Medicine's presence in social networks
Follow Us or Connect with us.