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Volume 10, Issue 1 (1-2022)
J. Pediatr. Rev 2022, 10(1): 61-66 |
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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-en.html
URL: http://jpr.mazums.ac.ir/article-1-419-en.html
1- Reference Laboratory of Qazvin Medical University, Iran Sana Medical Genetics Laboratory, Qazvin, Iran.
2- Student of Medicine, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
3- Children Growth Research Center, Research Institute for Prevention of Non-Communicable Diseases, Qazvin University of Medical Sciences, Qazvin, Iran. , drfa_saffari@yahoo.com
2- Student of Medicine, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
3- Children Growth Research Center, Research Institute for Prevention of Non-Communicable Diseases, Qazvin University of Medical Sciences, Qazvin, Iran. , drfa_saffari@yahoo.com
Abstract: (1595 Views)
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.
Type of Study: Case Report and Review of Literature |
Subject:
Endocrinology
Received: 2021/07/11 | Accepted: 2021/09/26 | Published: 2022/01/1
Received: 2021/07/11 | Accepted: 2021/09/26 | Published: 2022/01/1
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