To the best of our knowledge, this mutation has not been reported thus far, but its localization and type would imply a complete disruption of the 17?-HSD3 which may explain the phenotype of our patient
📌 3 Key Takeaways
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Objective & Hypothesis:17-?-hydroxysteroid dehydrogenase type 3 (17?-HSD3) is an important enzyme involved in the final steps of androgen synthesis and is required for the development of normal male external genitalia. 46,XY individuals with deficiency of this enzyme present a wide clinical spectrum from a female appearance of the external genitalia through ambiguous genitalia to a predominantly male genitalia with micropenis or hypospadias.
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Key Findings & Data:This paper reports a one-year-old 46,XY patient with 17?-HSD3 deficiency who presented with female external genitalia and bilaterally palpable gonads in the inguinal region.
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Conclusion & Impact:To the best of our knowledge, this mutation has not been reported thus far, but its localization and type would imply a complete disruption of the 17?-HSD3 which may explain the phenotype of our patient
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters
Abstract
17-?-hydroxysteroid dehydrogenase type 3 (17?-HSD3) is an important enzyme involved in the final steps of androgen synthesis and is required for the development of normal male external genitalia. 46,XY individuals with deficiency of this enzyme present a wide clinical spectrum from a female appearance of the external genitalia through ambiguous genitalia to a predominantly male genitalia with micropenis or hypospadias. This paper reports a one-year-old 46,XY patient with 17?-HSD3 deficiency who presented with female external genitalia and bilaterally palpable gonads in the inguinal region. The low T/?4 ratio after human chorionic gonadotropin (hCG) stimulation suggested 17?-HSD3 deficiency. A homozygous mutation, c.761_762delAG, was determined at the intron 9/exon 10 splice site of the HSD17B3 gene. To the best of our knowledge, this mutation has not been reported thus far, but its localization and type would imply a complete disruption of the 17?-HSD3 which may explain the phenotype of our patient
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Cite This Article
ALİKAŞİFOĞLU, A., KARAOĞLAN, D. V., HİORT, O., GÖNÇ, E. N., ÖZÖN, Z. A., KANDEMİR, N. (2015). Severe Undervirilisation in a 46,XY Case Due to a Novel Mutation in HSD17B3 Gene. Journal of Clinical Research in Pediatric Endocrinology, Cilt: 7 - Sayı: 3, 249–252. https://ajindex.com/articles/270531
References (9)
Mendonca BB, Inacio M, Arnhold IJ, Costa EM, Bloise W, Martin RM, Denes FT, Silva FA, Andersson S, Lindqvist A, Wilson JD. Male pseudohermaphroditism due to 17 beta-hydroxysteroid dehydrogenase 3 deficiency. Diagnosis, psychological evaluation, and management. Medicine (Baltimore) 2000;79:299-309.
Moeller G, Adamski J. Integrated view on 17beta-hydroxysteroid dehydrogenases. Mol Cell Endocrinol 2009;301:7-19. Epub 2008 Nov 5 Boehmer AL, Brinkmann AO, Sandkuijl LA, Halley DJ, Niermeijer MF, Andersson S, de Jong FH, Kayserili H, de Vroede MA, Otten BJ, Rouwé CW, Mendonça BB, Rodrigues C, Bode HH, de Ruiter PE, Delemarre-van de Waal HA, Drop SL. 17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations. J Clin Endocrinol Metab 1999;84:4713-4721.
Rösler A, Silverstein S, Abeliovich D. A (R80Q) mutation in 17 beta-hydroxysteroid dehydrogenase type 3 gene among Arabs of Israel is associated with pseudohermaphroditism in males and normal asymptomatic females. J Clin Endocrinol Metab 1996;81:1827-1831.
Mendonca BB, Arnhold IJ, Bloise W, Andersson S, Russell DW, Wilson JD. 17Beta-hydroxysteroid dehydrogenase 3 deficiency in women. J Clin Endocrinol Metab 1999;84:802-804.
Ulloa-Aguirre A, Bassol S, Poo J, Mendez JP, Mutchinick O, Robles C, Perez-Palacios G. Endocrine and biochemical studies in a 46,XY phenotypically male infant with 17-ketosteroid reductase deficiency. J Clin Endocrinol Metab 1985;60:639-643.
Sinnecker GH, Hiort O, Dibbelt L, Albers N, Dörr HG, Hauss H, Heinrich U, Hemminghaus M, Hoepffner W, Holder M, Schnabel D, Kruse K. Phenotypic classification of male pseudohermaphroditism due to steroid 5 alpha-reductase 2 deficiency. Am J Med Genet 1996;63:223-230.
Geissler WM, Davis DL, Wu L, Bradshaw KD, Patel S, Mendonca BB, Elliston KO, Wilson JD, Russell DW, Andersson S. Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3. Nat Genet 1994;7:34-39.
Andersson S, Geissler WM, Wu L, Davis DL, Grumbach MM, New MI, Schwarz HP, Blethen SL, Mendonca BB,Bloise W, Witchel SF, Cutler GB Jr, Griffin JE, Wilson JD, Russel DW. Molecular genetics and pathophysiology of 17 beta- hydroxysteroid dehydrogenase 3 deficiency. J Clin Endocrinol Metab 1996;81:130-136. Rosler A. 17 beta-hydroxysteroid dehydrogenase 3 deficiency in the Mediterranean population. Pediatr Endocrinol Rev 2006;3(Suppl 3):455-461.