A Case of 17.ALPHA.-Hydroxylase Deficiency with Retained Menstruation.
نویسندگان
چکیده
منابع مشابه
A Case of 17a-Hydroxylase Menstruation Deficiency with Retained
A patient with 17a-hydroxylase deficiency (170HD) who continued to menstruate is reported. A 24-year-old woman who presented with hypertension, hypokalemia and irregular menses had increased plasma ACTH and mineralocorticoids without any increase in glucocorticoids or sex steroids, and a bilateral adrenal enlargement on abdominal X-ray CT. ACTH stimulation test revealed hyperresponse of the met...
متن کامل17alpha-hydroxylase/17,20-lyase deficiency as a model to study enzymatic activity regulation: role of phosphorylation.
Cytochrome P450 17alpha-hydroxylase (CYP17) is a single gene-encoded protein with two activities: 17alpha-hydroxylase and 17,20-lyase. The two catalytic activities are differentially regulated in health and disease. We took advantage of naturally occurring human mutations to understand the molecular bases of this differential regulation. We identified eight novel mutations in the CYP17 gene, di...
متن کاملLong term follow-up of a 46,XY phenotypic girl with 17alpha-hydroxylase deficiency treated with alternate-day dexamethasone.
We report an 18-year-old 46,XY phenotypic girl who has been on alternate-day dexamethasone therapy for 10 years. The patient was seen at our hospital for right-sided inguinal hernia at the age of 4 years. Biopsy of the herniated gonad showed testicular tissue, and the karyotype of the peripheral lymphocytes was 46,XY. The diagnosis of 17alpha-hydroxylase deficiency was established by the evalua...
متن کاملSeventeen Alpha-Hydroxylase Deficiency Associated with Absent Gonads and Myelolipoma: A Case Report and Review of Literature
Congenital adrenal hyperplasia comprises a group of disorders resulting from defects in enzymes required for the synthesis of cortisol. The clinical presentation depends on the specific enzyme defect. We report a rare case of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency. A 26-year-old female patient referred with hypertension and hypokalemia. She also had primary amenor...
متن کاملA case of 17 alpha-hydroxylase deficiency
17α-hydroxylase and 17,20-lyase are enzymes encoded by the CYP17A1 gene and are required for the synthesis of sex steroids and cortisol. In 17α-hydroxylase deficiency, there are low blood levels of estrogens, androgens, and cortisol, and resultant compensatory increases in adrenocorticotrophic hormone that stimulate the production of 11-deoxycorticosterone and corticosterone. In turn, the exces...
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ژورنال
عنوان ژورنال: Endocrine Journal
سال: 1994
ISSN: 0918-8959,1348-4540
DOI: 10.1507/endocrj.41.213