Ozlem Kara1, Orhan Gorukmez2, Arzu Ekici3, Fatih Celik4. 1. Pediatric Endocrinology, University of Health Sciences Bursa, Yuksek Ihtisas Training and Research Hospital, Bursa, Turkey. 2. Genetics, University of Health Sciences Bursa, Yuksek Ihtisas Training and Research Hospital, Bursa, Turkey. 3. Pediatric Neurology, University of Health Sciences Bursa, Yuksek Ihtisas Training and Research Hospital, Bursa, Turkey. 4. Pediatric Surgical, Bursa Uludag University Medical School, Bursa, Turkey.
Abstract
BACKGROUND: One of the causes of congenital adrenal insufficiency, a genetically heterogeneous disorder is a mutation in the CYP11A1 gene, which is responsible for the initiation of steriodogenesis by converting cholesterol to pregnenolone. Case: In a now 3 years and 3 months-old girl, adrenal insufficiency was diagnosed in the neonatal period. Clinical exome sequencing for primary adrenal insufficiency revealed a homozygous p.Thr330Met (c.989C>T) variant in the CYP11A1 (NM_000781) gene. Conclusion: Different types of inheritance patterns have been observed in CYP11A1-related adrenal insufficiency cases. We consider our case is an due to an autosomal recessive inheritance.
BACKGROUND: One of the causes of congenital adrenal insufficiency, a genetically heterogeneous disorder is a mutation in the CYP11A1 gene, which is responsible for the initiation of steriodogenesis by converting cholesterol to pregnenolone. Case: In a now 3 years and 3 months-old girl, adrenal insufficiency was diagnosed in the neonatal period. Clinical exome sequencing for primary adrenal insufficiency revealed a homozygous p.Thr330Met (c.989C>T) variant in the CYP11A1 (NM_000781) gene. Conclusion: Different types of inheritance patterns have been observed in CYP11A1-related adrenal insufficiency cases. We consider our case is an due to an autosomal recessive inheritance.
Authors: Pawel Matusik; Agnieszka Gach; Olimpia Zajdel-Cwynar; Iwona Pinkier; Grzegorz Kudela; Aneta Gawlik Journal: Int J Environ Res Public Health Date: 2021-07-05 Impact factor: 3.390