17-Alpha Hydroxylase Deficiency: A Rare Case of Primary Amenorrhea and Hypertension
| Autor: | Seher Polat, Paul-Martin Holterhus, Fahrettin Kelestimur, Zuleyha Karaca, Fatih Tanriverdi, Yasin Simsek, Halit Diri, Kursad Unluhizarci, Felix G. Riepe |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2014 |
| Předmět: |
medicine.medical_specialty
lcsh:RC648-665 17-alpha hydroxylase deficiency business.industry Endocrinology Diabetes and Metabolism lcsh:Diseases of the endocrine glands. Clinical endocrinology Endocrinology primary amenorrhea CYP17A1 Internal medicine Rare case Internal Medicine Medicine congenital adrenal hyperplasia business Primary amenorrhea in vitro fertilization |
| Zdroj: | Turkish Journal of Endocrinology and Metabolism, Vol 18, Iss 4, Pp 137-139 (2014) |
| ISSN: | 1301-2193 |
| Popis: | 17-alpha hydroxylase deficiency (17OHD) is an uncommon cause of congenital adrenal hyperplasia (CAH) resulting from mutation in the CYP17 gene. It is an autosomal recessive disease leading to the deficiency of enzyme activity which results in impaired synthesis of cortisol, androgen and sex steroids. A 35-year-old woman was admitted to the hospital with hypokalemia, weakness, and fatigue. Medical history revealed two attempts of in vitro fertilization (IVF) without achieving pregnancy. Laboratory evaluation showed hypokalemia, hypocortisolemia, hypergonadotropic hypogonadism and increased levels of 11-deoxycorticosterone. Her karyotype was 46XX. The patient had no history of menarche. She had Tanner stage 2 breast development. Genotyping showed homozygous mutation located in exon 7 which abolishes both 17-alpha hydroxylase and 17,20 lyase activities of the CYP17A1 protein. After starting dexamethasone 0.5 mg/day, her potassium level was normalized, and blood pressure improved. In conclusion, a comprehensive evaluation should be performed before using assisted reproductive techniques, such as in vitro fertilization in hypertensive women with sexual infantilism, primary amenorrhea, and hypokalemia. |
| Databáze: | OpenAIRE |
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