A Greek girl with 11β-hydroxylase deficiency due to compound heterozygosity for two novel mutations in CYP11B1 gene

Endocrinology, Diabetes & Metabolism Case Reports

article

Chrisanthi Marakaki¹  Anna Papadopoulou¹  Olga Karapanou¹  Dimitrios T Papadimitriou¹  Kleanthis Kleanthous¹  Anastasios Papadimitriou¹ 

[1] Third Department of Pediatrics, Attikon University Hospital

关键词: Paediatric;    Female;    White;    Greece;    Adrenal;    Adrenal;    ACTH;    Androgens;    Androstenedione;    17OHP;    Deoxycortisol;    DHEA;    Renin;    Testosterone;    Congenital adrenal hyperplasia;    Virilisation (abnormal);    ACTH;    ACTH stimulation;    Genetic analysis;    Plasma renin activity;    DHEA sulphate;    Molecular genetic analysis;    Androstenedione;    17OHP;    Testosterone;    DNA sequencing;    Hydrocortisone;    Glucocorticoids;    Paediatrics;    New disease or syndrome: presentations/diagnosis/management;    October;    2015;   

DOI  :  10.1530/EDM-15-0074

学科分类：血液学

来源: Bioscientifica Ltd.

【 摘 要 】

11b-hydroxylase deficiency (11b-OHD), an autosomal recessive inherited disorder, accounts for 5–8% of congenital adrenalhyperplasia. In Greece, no cases of 11b-OHD have been described so far. The patient presented at the age of 13 months withmild virilization of external genitalia and pubic hair development since the age of 3 months. Hormonal profile showedelevated 11-deoxycortisol, adrenal androgens and ACTH levels. ACTH stimulation test was compatible with 11b-OHD. DNA ofthe proband and her parents was isolated and genotyped for CYP11B1 gene coding cytochrome P450c11. The girl was foundto be compound heterozygous for two CYP11B1 novel mutations, p.Ala386Glu (exon 7), inherited from the father andp.Leu471Argin (exon 9) from the mother. Hydrocortisone supplementation therapy was initiated. Four years afterpresentation she remains normotensive, her growth pattern is normal and the bone age remains advanced despite adequatesuppression of adrenal androgens.

【 授权许可】

CC BY-NC-ND