17-α-Hydroxylase Deficiency Due to P.R362C Mutation in two Sisters From India
نویسندگان
چکیده
منابع مشابه
17-hydroxylase/17,20-lyase deficiency due to a R96Q mutation causing hypertension and poor breast development
UNLABELLED Combined17α-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. She was hypertensive and hypogonad...
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...
متن کاملCongenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: description of a new mutation, R384X
CASE DESCRIPTION It is presented the phenotype of a new compound heterozygous mutation of the genes R384X and Q356X encoding the enzyme of 11-beta-hydroxylase. CLINICAL FINDINGS Severe virilization, peripheral hypertension, and early puberty. TREATMENT AND OUTCOME Managed with hormone replacement therapy (corticosteroid) and antihypertensive therapy (beta-blocker), resulting in the control ...
متن کاملBRIEF REPORT A Novel Point Mutation in P450c17 (CYP17) Causing Combined 17 -Hydroxylase/17,20-Lyase Deficiency
Center for Endocrinology (A.M.B., J.P.M.), William Harvey Research Institute, St. Bartholomew’s Hospital, Queen Mary, University of London, London EC1A 7BE, United Kingdom; Department of Clinical Biochemistry (N.F.T.), King’s College Hospital, London SE5 9RS, United Kingdom; Department of Medical Oncology (J.H.S., M.E.G., T.A.), Royal Marsden Hospital, London SW3 6JJ, United Kingdom; Institute ...
متن کاملADA2 deficiency: case report of a new phenotype and novel mutation in two sisters
The objective of this paper is to: describe the phenotype compound heterozygote for mutations in CECR1 in two children. We describe the clinical and immunological phenotype, including the assessment of ADA2 activity, cytokine expression, interferon-stimulated and neutrophil-stimulated gene signatures, and the results of CECR1 sequencing. The first patient presented with intermittent fever, cuta...
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ژورنال
عنوان ژورنال: AACE Clinical Case Reports
سال: 2017
ISSN: 2376-0605
DOI: 10.4158/ep161551.cr