Results 241 to 250 of about 445,228 (273)
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Congenital adrenal hyperplasia
Medicine, 1990Congenital adrenal hyperplasia (CAH) results from enzymatic defects in the pathways of adrenal steroidogenesis, with over 90% of cases being due to 21-hydroxylase deficiency caused by autosomal recessive mutations in the CYP21 gene. Classical presentation—this is in the neonatal period with ambiguous genitalia/virilization of a female ...
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Nonclassic adrenal hyperplasia
Fertility and Sterility, 2006Among 297 women with nonclassic adrenal hyperplasia (NCAH), premature pubarche was the most common complaint in girls (87%), and the frequency of hirsutism increased progressively with age from adolescence (50%) to adulthood (70%). The frequency of spontaneous miscarriages was high in NCAH patients (20%), but it decreased significantly after treatment.
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Nonclassic adrenal hyperplasia
Reviews in Endocrine and Metabolic Disorders, 2008Nonclassic adrenal hyperplasia is most commonly attributable to mutations in CYP21A2 (also termed CYP21) encoding steroid 21-hydroxylase. Partial deficiency of this enzyme causes an imbalance in cortisol synthesis with consequent adrenal androgen excess.
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Adrenal Medullary Hyperplasia: Hyperplasia‐pheochromocytoma Sequence
Acta Pathologica Japonica, 1990We present a case of unilateral adrenal medullary hyperplasia in a 63‐year‐old woman with‐clinical signs and symptoms of pheochromocytoma unassociated with multiple endocrine neoplasia. The surgically removed adrenal gland revealed diffuse medullary hyperplasia with multiple micronodules measuring up to 2 mm.
K, Kurihara +5 more
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Congenital Adrenal Hyperplasia
2019Congenital adrenal hyperplasia (CAH) is a group of seven autosomal recessively inherited disorders of various enzymes participating in adrenal steroid hormone synthesis. Patients present with various symptoms depending on the nature and severity of the enzymatic block. More than 95% of all CAH patients suffer from 21-hydroxylase deficiency. The genetic
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Congenital Adrenal Hyperplasias
Endocrinology and Metabolism Clinics of North America, 1991The congenital adrenal hyperplasias (CAH) are a very common group of genetic disorders of steroid hormone synthesis. The genes encoding each of the steroid biosynthetic enzymes have now been cloned, and the mutations in these genes that cause the various forms of CAH are being determined. The emerging picture is substantially different from traditional
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Congenital adrenal hyperplasias
Best Practice & Research Clinical Endocrinology & Metabolism, 2001Congenital adrenal hyperplasia syndromes result from deficiencies of enzymes involved in corticosteroid biosynthesis. Most commonly, they are due to mutations in 21-hydroxylase. This chapter describes the clinical diagnosis and management of congenital adrenal hyperplasias throughout life, including in the fetus, child and adult.
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Update on primary bilateral macronodular adrenal hyperplasia (PBMAH)
Endocrine, 2021L. Bouys +4 more
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Congenital adrenal hyperplasia
Clinics in Endocrinology and Metabolism, 1985Congenital adrenal hyperplasia (CAB) is an inherited disorder of adrenal steroid biosynthesis. The basic defect is the deficiency of an enzyme in the pathway of cortisol production. This results in distinct biochemical and clinical features, each depending on the site of the deficient enzyme, and on the secondary effects of steroids, which are produced
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