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An Iranian Congenital Adrenal Hypoplasia Patient With Elevated Testosterone in Infancy Due to a Novel Pathogenic Frameshift Variant in Nr0b1 Publisher



Kalayinia S1 ; Talebi S2 ; Miryounesi M3 ; Sarkhail P4 ; Mahdieh N1, 5
Authors
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Authors Affiliations
  1. 1. Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran
  2. 2. Department of Medical Genetics, Faculty of Medicine, Iran University of Medical Sciences, Tehran, Iran
  3. 3. Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  4. 4. Pediatric Department, Atieh Hospital, Tehran, Iran
  5. 5. Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran

Source: International Journal of Endocrinology Published:2021


Abstract

X-linked congenital adrenal hypoplasia due to NR0B1 mutation is characterized by hypogonadotropic hypogonadism (HH) and infertility. Here, we describe a novel pathogenic frameshift variant in NR0B1 associated with congenital adrenal hypoplasia by whole exome sequencing in an Iranian case with high level of testosterone. Clinical evaluations and pedigree drawing were performed. Point mutations, gene conversions, and large deletions of the CYP21A2 gene were checked. WES and segregation analyses were conducted. In silico analysis was also performed for the novel variant. The ACTH, 17-hydroxy progesterone c, and DHEA sulfate values were elevated up to 624.6 pg/mL, 8.6 pmol/L, and 17.8UMOL/L, respectively. No mutation was found in the CYP21A2 gene. WES identified a novel hemizygous frameshift insertion c.218_219insACCA: p.His73GlnfsTer41 variant in the NR0B1 gene with a pathogenic effect according to ACMG criteria. Genetic testing is helpful for differential diagnosis in primary adrenal insufficiency disorders. NR0B1 may be a common cause of congenital adrenal hypoplasia in our population. © 2021 Samira Kalayinia et al.
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