Results 11 to 20 of about 119,945 (311)
Fertility and body composition after laparoscopic bilateral adrenalectomy in a 30-year-old female with congenital adrenal hyperplasia [PDF]
, 2001 Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is caused by an inborn defect in the 21-hydroxylase gene (CYP21), leading to virilization of female patients and causing ambiguous genitals in the majority of ...
Bonjer, H.J. (Jaap) +5 more
core +6 more sources
Non-Classic Congenital Adrenal Hyperplasia in Childhood: A Review
Sexes, 2023 Congenital adrenal hyperplasia (CAH) is a heterogeneous group of autosomal recessive disorders due to defects in adrenal steroid biosynthesis. In about 90% of patients, CAH is caused by pathogenetic variants in CYP21A2 gene, impairing the function of 21 ...
Giulia Bertolucci +7 more
doaj +1 more source
Congenital adrenal hyperplasia [PDF]
Medicinski Podmladak, 2021 Congenital adrenal hyperplasia is a disease in which a gene mutation, which is inherited in an autosomal recessive manner, causes a disorder in the synthesis of enzymes that create glucocorticoids, mineralocorticoids, or sex steroids from adrenal ...
Miolski Jelena +2 more
doaj +1 more source
Frontiers in Immunology, 2021 ObjectivesCD8+ T cells targeting 21-hydroxylase (21OH) are presumed to play a central role in the destruction of adrenocortical cells in autoimmune Addison’s disease (AAD).
Alexander Hellesen +22 more
doaj +1 more source
Screening for Mutations of 21-Hydroxylase Gene in Hungarian Patients with Congenital Adrenal Hyperplasia [PDF]
, 1999 Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders, causing impaired secretion of cortisol and aldosterone from the adrenal cortex, with subsequent overproduction of adrenal androgens.
Barta, Csaba +8 more
core +1 more source
Monitoring treatment in pediatric patients with 21-hydroxylase deficiency
Frontiers in Endocrinology, 2023 21-hydroxylase deficiency (21-OHD) is the most common form of congenital adrenal hyperplasia. In most developed countries, newborn screening enables diagnosis of 21-OHD in asymptomatic patients during the neonatal period.
Tomoyo Itonaga +2 more
doaj +1 more source
Congenital adrenal hyperplasia: focus on the molecular basis of 21-hydroxylase deficiency [PDF]
, 2007 Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by defects in one of several steroidogenic enzymes involved in the synthesis of cortisol from cholesterol in the adrenal glands.
Friães, A, Gonçalves, J, Moura, L
core +1 more source
The Turkish Journal of Pediatrics, 2019 21-hydroxylase-deficient congenital adrenal hyperplasia (CAH) is associated with cardiovascular risk factors such as, hypertension, obesity, dyslipidemia, and insulin resistance.
Hüseyin Anıl Korkmaz +5 more
doaj +1 more source
Genotype-phenotype correlation in patients with 21-hydroxylase deficiency
Frontiers in Endocrinology, 2023 Introduction21-hydroxylase deficiency (21OHD) is the most common cause of congenital adrenal hyperplasia (CAH). However, patients with 21OHD manifest various phenotypes due to a wide-spectrum residual enzyme activity of different CYP21A2 mutations ...
Peng Tang +13 more
doaj +1 more source
Noninvasive prenatal diagnosis of 21-Hydroxylase deficiency using target capture sequencing of maternal plasma DNA. [PDF]
, 2017 Here, we aimed to validate a noninvasive method using capture sequencing for prenatal diagnosis of congenital adrenal hyperplasia due to 21-Hydroxylase deficiency (21-OHD).
Asan +16 more
core +2 more sources