ECE2011 Poster Presentations Clinical case reports (73 abstracts)
17β-hydroxysteroid dehydrogenase type 3 deficiency: a new case of a rare disease with an uncommon gene mutation
M Galdiero , P Vitale , F Cariati , L F S Grasso , A Cozzolino , C Simeoli , L Afeltra , C Piscopo , R Rossi , D Melis , C Alviggi , G Lombardi , A Colao & R Pivonello
Federico II University, Naples, Italy.
Deficiency of 17β-hydroxysteroid dehydrogenase type 3 (17βHSD3), an enzyme converting androstenedione (A) to testosterone (T) in the Leydig cells of the testis, is a rare cause of autosomal recessive 46,XY disorders of sexual development (DSD). A 18-year-old phenotypically female patient presented with primary amenorrhea. She had deep voice, macrocephaly, broad forehead, enlarged nasal tip, macrostomia, facial acne, gynecomastia, left-convex dorsal scoliosis, hypoplasia of the first finger of right hand, proximal implant of the fifth metatarsus bilaterally and an increased muscle mass and increased distribution of hair on face, neck, abdomen, pubic region and on upper and lower limbs. Genital exam showed thickened labra majora with absence of labra minora. Gynaecological exam shows a blind-ending pseudo-vagina (15 cm) with micropenis. Kariotype analysis showed a male genotype (46,XY). Hormonal evaluation showed decreased T (188 ng/dl) and increased A (10 ng/ml), considering male reference ranges, resulting in a decreased T/A ratio (0.188). MRI identified testicles in inguinal regions. Human Chorionic Gonadotropin test showed the lack of response of A although T/A ratio remained permanently under 0.8, as classically expected. These evidences were suggestive of a 46,XY DSD due to 17βHSD3 deficiency. A mutation (IVS3 -1 G>C or c.326–1G>C) which alter the splicing of exon 4 of the 17βHSD3 gene was discovered at the genetic evaluation. This mutation was previously reported in Dutch and Brazilian population and is one of 27 actually known mutations of 17βHSD3 gene. Psychologist identified a well determined female gender identity so was decided to proceed with surgical removal of the gonads and of micropenis with vaginal reconstruction. In conclusion, the case described in this study represents a new case of a rare DSD associated to a rare gene mutation of 17βHSD3 gene.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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