سه شنبه 28 فروردین 1403
دوره 10، شماره 1 - ( 11-1400 )
جلد 10 شماره 1 صفحات 66-61 |
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Heidari A, Homaei A, Saffari F. Identification of a Novel Mutation in an Iranian Family With 17-β Hydroxysteroid Dehydrogenase Type 3 Deficiency: A Case Series. J. Pediatr. Rev 2022; 10 (1) :61-66
URL: http://jpr.mazums.ac.ir/article-1-419-fa.html
URL: http://jpr.mazums.ac.ir/article-1-419-fa.html
Identification of a Novel Mutation in an Iranian Family With 17-β Hydroxysteroid Dehydrogenase Type 3 Deficiency: A Case Series. Journal of Pediatrics Review. 1400; 10 (1) :61-66
چکیده: (1591 مشاهده)
Background: We presented the clinical and genetic features of a male ambiguity due to 17-beta-hydroxysteroid dehydrogenase 3 (17B-HSD3) deficiency.
Methods: The proposita was an 11-year-old girl and the first child of a consanguineous family. The external genitalia were completely female and had a short vaginal pouch. She had palpable gonads in her inguinal area and underwent bilateral gonadectomy at the age of two. At the age of 10, she was referred to our clinic for more evaluation. In pelvic sonography, uterine and ovarian were not seen. Her karyotype was 46, XY, and her LH and FSH levels were elevated, and three of the patient’s aunts and one of the mother’s aunts had similar signs.
Conclusions: We identified a novel homozygous missense variation (c.731T>A, p. Ile244Lys) in the HSD17B3 gene. This alteration changes Isoleucine to Lysine in exon 10.
Methods: The proposita was an 11-year-old girl and the first child of a consanguineous family. The external genitalia were completely female and had a short vaginal pouch. She had palpable gonads in her inguinal area and underwent bilateral gonadectomy at the age of two. At the age of 10, she was referred to our clinic for more evaluation. In pelvic sonography, uterine and ovarian were not seen. Her karyotype was 46, XY, and her LH and FSH levels were elevated, and three of the patient’s aunts and one of the mother’s aunts had similar signs.
Conclusions: We identified a novel homozygous missense variation (c.731T>A, p. Ile244Lys) in the HSD17B3 gene. This alteration changes Isoleucine to Lysine in exon 10.
نوع مطالعه: Case Report and Review of Literature |
دریافت: 1400/4/20 | پذیرش: 1400/7/4 | انتشار: 1400/10/11
دریافت: 1400/4/20 | پذیرش: 1400/7/4 | انتشار: 1400/10/11
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