17-α-Hydroxylase deficiency: An unusual case with primary amenorrhea and hypertension
نویسندگان
چکیده
منابع مشابه
An Unusual Case: The Comorbidity of Mood Disorder and 17-α-Hydroxylase Deficiency.
17-α-hydroxylase enzyme has a crucial role in the steroid biosynthesis and, deficiency of this enzyme is an autosomal recessive monogenic disorder which is one of the two hypertensive form of congenital adrenal hyperplasia. It is characterized with the deficiency in glucocorticoid, adrenal androgen, and sex steroid synthesis with concomitant mineralocorticoid excess due to genetic defect in ste...
متن کاملAromatase deficiency: an unusual cause for primary amenorrhea with virilization.
The most common cause for menstrual abnormality and virilization in children and adolescents would be congenital adrenal hyperplasia. An elevated 17(OH) progesterone is invariably seen in this condition. Aromatase deficiency can also lead to a similar presentation but differs in several aspects. The age of onset of the clinical manifestations, the phenotype, biochemical abnormalities and karyot...
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 کاملAn unusual presentation of tyrosine hydroxylase deficiency
Background Dopa-responsive dystonia (DRD) has largely been associated with autosomal dominant mutations in the GCH1 gene leading to GTP cyclohydrolase 1 deficiency. More recently, a deficiency in tyrosine hydroxylase (TH) has been recognized to cause DRD. This is a rare disorder resulting from genetic mutations in the TH gene on chromosome 11. The phenotype ranges from DRD with complete resolut...
متن کاملPrimary Amenorrhea with Nonspecific Pelvic Mass: A Rare Case Report
Menstrual disorders are common in puberty, but they are of great concern to patients when presented with primary amenorrhea. This paper reports the case of a 17-year-old single female with secondary sexual characteristics and a suspicious mass in pelvic floor. She also complained from chronic pelvic pain. In laboratory tests, the hormone levels were normal and ultrasound scan showed a 50 to 89...
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ژورنال
عنوان ژورنال: Indian Journal of Endocrinology and Metabolism
سال: 2011
ISSN: 2230-8210
DOI: 10.4103/2230-8210.81945