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Licensed Unlicensed Requires Authentication Published by De Gruyter April 18, 2015

17βHSD-3 enzyme deficiency due to novel mutations in the HSD17B3 gene diagnosed in a neonate

  • Elif Sagsak EMAIL logo , Zehra Aycan , Senay Savas-Erdeve , Meliksah Keskin , Semra Cetinkaya and Kadri Karaer


17-β-Hydroxysteroid dehydrogenase type 3 (17βHSD-3) is present almost exclusively in the testes, and converts androstenedione (A) to testosterone (T). 17βHSD-3 deficiency is rare. The diagnosis can be missed in early childhood as the clinical presentation may be subtle. The most frequent presentation of 17 HSD-3 deficiency is a 46,XY individual with female external genitalia, labial fusion and a blind ending vagina, with or without clitoromegaly. A low testosterone/androstenedion (T/A) ratio is suggestive of 17βHSD-3 deficiency, and such diagnosis can be confirmed with molecular genetic studies. A 12-day newborn was referred to our hospital because of palpable gonads in the labia majora. On physical examination, the baby had female external genitalia and palpable gonads in the labia majora. T/A ratio was 0.26 and the diagnosis was 17βHSD-3 deficiency, which was confirmed by the evidence of compound heterozygousity novel frameshift mutations in exon 9 and 10 of HSD17B3 gene.

Corresponding author: Elif Sagsak, MD, Dr. Sami Ulus Obstetrics and Gynecology, Children’s Health and Diseases Training and Research Hospital, Pediatric Endocrinology Clinic, Ankara, Turkey, Phone: +90 312 305 65 08, Fax: +90 312 317 03 53, GSM: +90 532 510 2996, E-mail:


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Received: 2014-8-22
Accepted: 2015-3-6
Published Online: 2015-4-18
Published in Print: 2015-7-1

©2015 by De Gruyter

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