Cytochrome P450 oxidoreductase deficiency caused by a novel mutation in the POR gene in two siblings: case report and li
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SHORT REVIEW ARTICLE
Cytochrome P450 oxidoreductase deficiency caused by a novel mutation in the POR gene in two siblings: case report and literature review Edip Unal 1 & Meliha Demiral 1 Mehmet Nuri Özbek 1
&
Ruken Yıldırım 2
&
Funda Feryal Taş 1
&
Serdar Ceylaner 3
&
Received: 6 May 2020 / Accepted: 24 September 2020 # Hellenic Endocrine Society 2020
Abstract Introduction P450 oxidoreductase (POR) deficiency is a rare form of congenital adrenal hyperplasia. In both genders, it can lead to ambiguous genitalia, impaired steroidogenesis, and skeletal findings similar to those of Antley-Bixler syndrome. Cases We describe two cases of POR deficiency. The first case was an 8.5-year-old girl who was admitted to our clinic due to ambiguous genitalia. Karyotype was 46, XX. There were mild dysmorphic facial findings and mild metacarpophalangeal joint deformity. The patient’s basal cortisol and ACTH levels were normal, while 17-hydroxyprogesterone (17OHP) levels were high. Peak cortisol response to the ACTH stimulation test was found to be insufficient. Our second case, a sibling of the first case, was admitted for routine checkup at the age of 15 months. As in our first case, there were dysmorphic facial findings and metacarpophalangeal joint deformity. The genital structure was normal. Karyotype was 46, XY. Basal cortisol and ACTH levels were normal, while 17OHP level was slightly high. Peak cortisol response to the ACTH stimulation test was found to be insufficient. Based on our findings, POR deficiency was considered in both of these cases and NM_000941.3:c.929_937delTCTCGGAC T(p.Ile310_Ser313delinsThr) (homozygous) mutation was detected in the POR gene that had not previously been described. Conclusion We detected a novel variant in the POR gene in two sibling cases with adrenal insufficiency, dysmorphic face, and mild skeletal findings. While the detected mutation caused ambiguous genitalia in the female case, it did not cause ambiguous genitalia in the male case. Keywords Disorders of sexual development . POR deficiency . Congenital adrenal hyperplasia . Adrenal insufficiency . Skeletal malformation
Introduction The cytochrome P450 oxidoreductase (POR) enzyme is encoded by the POR gene. The cytochrome P450
oxidoreductase enzyme provides electron transfer to NADPH cytochrome P450 enzymes for steroid hormone synthesis and also plays a role in drug and toxin metabolism [1]. Since P450 enzymes are involved in catalyzing many substrates, POR
* Edip Unal [email protected]
Mehmet Nuri Özbek [email protected]
Meliha Demiral [email protected]
1
Department of Pediatric Endocrinology, Gazi Yaşargil Training and Research Hospital, Diyarbakır, Turkey
Ruken Yıldırım [email protected]
2
Department of Pediatric Endocrinology, Diyarbakır Children’s Hospital, Diyarbakır, Turkey
3
Department of Medical Genetics, Intergen Genetic Diagnosis Center, Ankara, Turkey
Funda Feryal Taş [email protected] Serdar Ceylaner [email protected]
Hormones
enzyme deficiency can lead to varying deg
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