ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume: 16 Issue: 1 Year: 2024
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Turkish Society for Pediatric Endocrinology and Diabetes
46,XY Disorder of Sex Development due to 17-Beta Hydroxysteroid Dehydrogenase Type 3 Deficiency in an Infant of Greek Origin [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2018; 10(1): 74-78 | DOI: 10.4274/jcrpe.4829

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

Assimina Galli Tsinopoulou1, Anastasios Serbis1, Eleni P. Kotanidou1, Eleni Litou1, Vaia Dokousli1, Konstantina Mouzaki1, Pavlos Fanis2, Vassos Neocleous2
1Aristotle University of Thessaloniki Faculty of Medicine, Department of Health Sciences, Papageorgiou General Hospital, 4th Clinic of Pediatrics, Thessaloniki, Greece
2The Cyprus Institute of Neurology & Genetics, Department of Molecular Genetics, Function & Therapy, Nicosia, Cyprus

17-beta hydroxysteroid dehydrogenase type 3 (17ßHSD-3) enzyme catalyzes the conversion of androstenedione (?4) 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/?4 ratio after a human chorionic gonadotropin stimulation test, a tentative diagnosis of 17ßHSD-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.

Keywords: Disorder of sex development,17-ß-hydroxysteroid dehydrogenase type 3 deficiency,HSD17B3 gene,androstenedione,testosterone

Assimina Galli Tsinopoulou, Anastasios Serbis, Eleni P. Kotanidou, Eleni Litou, Vaia Dokousli, Konstantina Mouzaki, Pavlos Fanis, Vassos Neocleous. 46,XY Disorder of Sex Development due to 17-Beta Hydroxysteroid Dehydrogenase Type 3 Deficiency in an Infant of Greek Origin. J Clin Res Pediatr Endocrinol. 2018; 10(1): 74-78
Manuscript Language: English
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