Results 21 to 30 of about 29,100 (161)
Frontiers in Endocrinology, 2023 Newborn screening for congenital adrenal hyperplasia using 17-hydroxyprogesterone by immunoassay remains controversial despite screening been available for almost 40 years. Screening is confounded by poor immunoassay specificity, fetal adrenal physiology,
Mark de Hora +7 more
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IJU Case Reports, 2021 Introduction Solid testis tumors in post‐pubertal males usually represent germ cell malignancies; however, other uncommon or rare histologies must be considered.
Erica C Roberts +5 more
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Reconstructive plastic surgery for congenital adrenal hyperplasia in girl [PDF]
Ķazaķstannyṇ Klinikalyķ Medicinasy, 2016 Congenital adrenal hyperplasia - congenital disease the cause of which is a genetic defect in the enzymes involved in the synthesis of corticosteroids, and transport proteins leading to hyperandrogenism and is accompanied by abnormalities of internal and
Daulet Zharassov
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Congenital lipoid adrenal hyperplasia [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2014 Congenital lipoid adrenal hyperplasia (lipoid CAH) is the most fatal form of CAH, as it disrupts adrenal and gonadal steroidogenesis. Most cases of lipoid CAH are caused by recessive mutations in the gene encoding steroidogenic acute regulatory protein ...
Chan Jong Kim
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Pakistan Armed Forces Medical Journal, 2023 Objective: To determine the growth characteristics in children with congenital adrenal hyperplasia visiting tertiary care hospital Karachi. Study Design: Cross-Sectional study.
Abdul Qayyum +5 more
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Sex assignment in conditions affecting sex development [PDF]
, 2017 The newborn infant with atypical genitalia presents a challenging clinical scenario and requires expert input. There have been appreciable advances in our knowledge of the underlying causes that may lead to a mere difference or a more serious disorder of
Ahmed, S. Faisal, Markosyan, Renata
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Growth Patterns in the First Three Years of Life in Children with Classical Congenital Adrenal Hyperplasia Diagnosed by Newborn Screening and Treated with Low Doses of Hydrocortisone [PDF]
, 2011 Background: Linear growth is the best clinical parameter for monitoring metabolic control in classical congenital adrenal hyperplasia (CAH). Objective: To analyze growth patterns in children with CAH diagnosed by newborn screening and treated with ...
Bonfig, W., Schmidt, H., Schwarz, H. P.
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Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 Oxidoreductase deficiency [PDF]
, 2010 Context: P450 oxidoreductase (POR) is a crucial electron donor to all microsomal P450 cytochrome (CYP) enzymes including 17α-hydroxylase (CYP17A1), 21-hydroxylase (CYP21A2) and P450 aromatase.
Adachi +59 more
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Functional studies of p.R132C, p.R149C, p.M283V, p.E431K, and a novel c.652-2A>G mutations of the CYP21A2 gene [PDF]
, 2014 Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is the most frequent inborn error of metabolism and accounts for 90–95% of CAH cases.
Bruque, Carlos David +7 more
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Central Precocious Puberty as a Sign of Congenital Adrenal Hyperplasia: Case Presentations [PDF]
, 2020 Central precocious puberty results from the premature activation of the hypothalamic-pituitary-gonadal axis. Rarely congenital adrenal hyperplasia and/or its inappropriate treatment can be a peripheral cause of CPP.
Markosyan, R.L., Navasardyan, L.V.
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