Alikasifoglu Ayfer, Hiort Olaf, Gonc Nazli, Demirbilek Huseyin, Isik Emregul, Kandemir Nurgun
Hacettepe University Faculty of Medicine, Division of Pediatric Endocrinology, Ankara, 06100 Turkey.
J Pediatr Endocrinol Metab. 2012;25(5-6):561-3. doi: 10.1515/jpem-2012-0009.
17-beta-Hydroxysteroid dehydrogenase type 3 (17betaHSD-3) converts delta4 androstenedione (A) to testosterone (T) in the testes. This enzyme plays a key role in androgen synthesis and it is essential for normal fetal development of male genitalia. 17betaHSD-3 deficiency is a rare cause of 46,XY disorders of sexual development. Here, we report a 16-year-old 46,XY patient with 17betaHSD-3 deficiency raised as a female and significantly virilized in puberty. A homozygous 7 base pair deletion on exon 10 was determined in HSD17B3 gene (c.777-783del_GATAACC). Our patient had one of the very rare mutations, which was previously unencountered in Turkish patients with 17betaHSD type 3, and she is the second reported case with this deletion.
17-β-羟类固醇脱氢酶3型（17βHSD-3）在睾丸中将Δ4雄烯二酮（A）转化为睾酮（T）。该酶在雄激素合成中起关键作用，对男性生殖器的正常胎儿发育至关重要。17βHSD-3缺乏是46,XY性发育障碍的罕见原因。在此，我们报告一名16岁的46,XY患者，患有17βHSD-3缺乏症，自幼被当作女性抚养，青春期出现明显男性化。在HSD17B3基因中确定了外显子10上的纯合7碱基对缺失（c.777-783del_GATAACC）。我们的患者具有非常罕见的突变之一，此前在土耳其17βHSD 3型患者中未发现过，她是第二例报告的具有这种缺失的病例。
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