17-hydroxylase/17,20-lyase deficiency due to a R96Q mutation causing hypertension and poor breast development

Endocrinology, Diabetes & Metabolism Case Reports

article

Asma Deeb¹  Hana Al Suwaidi¹  Salima Attia¹  Ahlam Al Ameri¹ 

[1] Paediatric Endocrinology Department, Mafraq Hospital

关键词: Paediatric;    Adolescent/young adult;    Adult;    Female;    Other;    United Arab Emirates;    Adrenal;    Adrenal;    ACTH;    Androstenedione;    17OHP;    Aldosterone;    Cortisol;    Deoxycorticosterone;    Corticosterone;    Gonadotropins;    Testosterone;    Congenital adrenal hyperplasia;    Hypogonadism;    Sexual development disorders;    17-alpha hydroxylase/17;    20 lyase deficiency;    Hypertension;    Hypokalaemia;    Headache;    Amenorrhoea;    Abdominal pain;    Adverse breast development;    Potassium;    ACTH stimulation;    ACTH;    DHEA Sulphate;    Androstenedione;    17OHP;    Aldosterone (serum);    Cortisol (serum);    Deoxycorticosterone;    Corticosterone;    Gonadotrophins;    Testosterone;    Renin (blood);    Alpha-fetoprotein;    Histopathology;    Ultrasound scan;    CT scan;    Genetic analysis;    Resection of tumour;    Chemotherapy;    Bleomycin;    Cisplatin;    Ethinylestradiol;    Etoposide;    Amlodipine;    Hydrocortisone;    Glucocorticoids;    Levonorgestrel;    Prednisolone;    Spironolactone;    Genetics;    Nephrology;    Oncology;    Unique/unexpected symptoms or presentations of a disease;    November;    2015;   

DOI  :  10.1530/EDM-15-0069

学科分类：血液学

来源: Bioscientifica Ltd.

【 摘 要 】

Combined17a-hydroxylase/17,20-lyase deficiency is a rare cause of congenital adrenal hyperplasia and hypogonadism.Hypertension and hypokalemia are essential presenting features. We report an Arab family with four affected XX siblings.The eldest presented with abdominal pain and was diagnosed with a retroperitoneal malignant mixed germ cell tumour. Shewas hypertensive and hypogonadal. One sibling presented with headache due to hypertension while the other two siblingswere diagnosed with hypertension on a routine school check. A homozygous R96Q missense mutation in P450c17 wasdetected in the index case who had primary amenorrhea and lack of secondary sexual characters at 17 years. The middle twosiblings were identical twins and had no secondary sexual characters at the age of 14. All siblings had hypokalemia, very lowlevel of adrenal androgens, high ACTH and high levels of aldosterone substrates. Treatment was commenced with steroidreplacement and puberty induction with estradiol. The index case had surgical tumor resection and chemotherapy.All siblings required antihypertensive treatment and the oldest remained on two antihypertensive medications 12 yearsafter diagnosis. Her breast development remained poor despite adequate hormonal replacement. Combined17a-hydroxylase/17,20-lyase deficiency is a rare condition but might be underdiagnosed. It should be considered in youngpatients presenting with hypertension, particularly if there is a family history of consanguinity and with more than oneaffected sibling. Antihypertensive medication might continue to be required despite adequate steroid replacement. Breastdevelopment may remain poor in mutations causing complete form of the disease.

【 授权许可】

CC BY-NC-ND