Results 21 to 30 of about 20,605 (223)
Phenotypically Male Congenital Adrenal Hyperplasia Patient with Huge Space-occupying Adrenal Masses: a Case Report and Literature Review [PDF]
Zhongguo quanke yixue, 2023 Congenital adrenal hyperplasia (CAH) is an autosomal recessive genetic disease encompassing enzyme deficiencies in the process of adrenal steroidogenesis, which leads to adrenal cortex dysfunction.
RAO Yufeng, MENG Liheng, ZHOU Jia, LIANG Xinghuan, HUANG Zhenxing, QIN Yingfen
doaj +1 more source
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
Classic and current concepts in adrenal steroidogenesis: a reappraisal
Archives of Endocrinology and Metabolism, 2022 Adrenal steroid biosynthesis and its related pathology are constant evolving disciplines. In this paper, we review classic and current concepts of adrenal steroidogenesis, plus control mechanisms of steroid pathways, distribution of unique enzymes and ...
Claudio E. Kater +2 more
doaj +1 more source
Clinical and molecular review of atypical congenital adrenal hyperplasia [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2015 Congenital adrenal hyperplasia (CAH) is one of the most common inherited metabolic disorders. It comprises a group of autosomal recessive disorders caused by the mutations in the genes encoding for steroidogenic enzymes that involved cortisol synthesis ...
Taninee Sahakitrungruang
doaj +1 more source
Journal of Family Medicine and Primary Care, 2020 Background: The primary aim of treating congenital adrenal hyperplasia (CAH) due to 21 hydroxylase deficiency is to replace the deficient glucocorticoids and mineralocorticoids, to minimize the excess androgen production and to facilitate normal growth ...
Vasantha Singarayan +3 more
doaj +1 more source
JCRPE, 2021 Steroid 21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia (CAH), usually due to biallelic variants in CYP21A2. Classical 21-hydroxylase deficiency is characterised by virilisation of the external genitalia in females ...
Tuğba Kontbay, İhsan Turan
doaj +1 more source
Exploring the Potential of Sulfur Moieties in Compounds Inhibiting Steroidogenesis
Biomolecules, 2023 This study reports on the synthesis and evaluation of novel compounds replacing the nitrogen-containing heterocyclic ring on the chemical backbone structure of cytochrome P450 17α-hydroxylase/12,20-lyase (CYP17A1) inhibitors with a phenyl bearing a ...
Tomasz M. Wróbel +16 more
doaj +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 Hyperplasias Presenting in the Newborn and Young Infant
Frontiers in Pediatrics, 2020 Congenital adrenal hyperplasia includes autosomal recessive conditions that affect the adrenal cortex steroidogenic enzymes (cholesterol side-chain cleavage enzyme; 3β-hydroxysteroid dehydrogenase; 17α-hydroxylase/17,20 lyase; P450 oxidoreductase; 21 ...
Antonio Balsamo +7 more
doaj +1 more source
Expression of Key Androgen-Activating Enzymes in Ovarian Steroid Cell Tumor, Not Otherwise Specified
Journal of Investigative Medicine High Impact Case Reports, 2020 To characterize the expression of steroidogenic enzymes implicated in the development of ovarian steroid cell tumors, not otherwise specified (SCT-NOS). We present 4 ovarian SCT-NOS evaluated by immunohistochemical staining of steroidogenic enzymes as an
Evana Valenzuela Scheker MD +8 more
doaj +1 more source