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

• Published in: Journal of clinical research in pediatric endocrinology Vol. 10; no. 1; pp. 74 - 78
• Main Authors: Galli-Tsinopoulou, Assimina, Serbis, Anastasios, Kotanidou, Eleni P, Litou, Eleni, Dokousli, Vaia, Mouzaki, Konstantina, Fanis, Pavlos, Neocleous, Vassos, Skordis, Nicos
• Format: Journal Article
• Language: English
• Published: Turkey Galenos Yayinevi Tic. Ltd 01-03-2018; Türk Pediatrik Endokrinoloji ve Diyabet Derneği; Galenos Publishing House; Galenos Publishing
• Subjects: 17-Hydroxysteroid Dehydrogenases - deficiency; 17-Hydroxysteroid Dehydrogenases - genetics; 17-Hydroxysteroid Dehydrogenases - metabolism; 46, XY Disorders of Sex Development - diagnosis; 46, XY Disorders of Sex Development - genetics; 46, XY Disorders of Sex Development - metabolism; Androgens; Case Report; Defects; Dehydrogenases; Enzymes; Females; Fetuses; Gene mutations; Genes; Genetic aspects; Greece; Gynecomastia - diagnosis; Gynecomastia - genetics; Gynecomastia - metabolism; Health aspects; Hormones; Humans; Infant, Newborn; Infants; Male; Mutation; Population; Pseudohermaphroditism; Risk factors; Sex differentiation disorders; Steroid Metabolism, Inborn Errors - diagnosis; Steroid Metabolism, Inborn Errors - genetics; Steroid Metabolism, Inborn Errors - metabolism; Testosterone; Tıp; İstanbul; Türkiye; 17-β-hydroxysteroid dehydrogenase type 3 deficiency; androstenedione testosterone; Disorder of sex development; HSD17B3 gene; androstenedione; testosterone
• ISSN: 1308-5727; 1308-5735
• DOI: 10.4274/jcrpe.4829

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.