Results 31 to 40 of about 32,928 (226)
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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Congenital Adrenal Hyperplasia [PDF]
Archives of Disease in Childhood, 1974 Congenital adrenocortical hyperplasia is a complex endocrine disorder of importance to the paediatric urologist because it produces an intersex state in the female and precocious virilisation in the male. The excessive secretion of androgens by the foetal adrenal cortex commences in early foetal life at some time after the differentiation of the ...
openaire +3 more sources
Journal of Clinical Endocrinology and Metabolism, 2018 Objective To update the congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency clinical practice guideline published by the Endocrine Society in 2010.
P. Speiser +10 more
semanticscholar +1 more source
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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Stability analysis of a hypothalamic-pituitary-adrenal axis model with inclusion of glucocorticoid receptor and memory [PDF]
AIP Conference Proceedings 1798, 020111, 2017, 2016 This paper analyzes a four-dimensional model of the hypothalamic-pituitary-adrenal (HPA) axis that includes the influence of the glucocorticoid receptor in the pituitary. Due to the spatial separation between the hypothalamus, pituitary and adrenal glands, distributed time delays are introduced in the mathematical model.
arxiv +1 more source
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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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
doaj +1 more source
Auditory cortex and beyond: Deficits in congenital amusia [PDF]
Hearing Research, 2023, 437, pp.108855, 2023 Congenital amusia is a neuro-developmental disorder of music perception and production, with the observed deficits contrasting with the sophisticated music processing reported for the general population. Musical deficits within amusia have been hypothesized to arise from altered pitch processing, with impairments in pitch discrimination and, notably ...
arxiv +1 more source
Congenital adrenal hyperplasia
Medicine, 2013 Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder of adrenal steroid biosynthesis affecting 1/10,000 to 1/15,000 live births. The most common form is 21-hydroxylase deficiency due to mutations in the CYP21A2 gene. CAH classically presents at birth with ambiguous genitalia in an affected female.
Helen Simpson +3 more
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NonClassic Congenital Adrenal Hyperplasia [PDF]
International Journal of Pediatric Endocrinology, 2010 Nonclassic congenital adrenal hyperplasia (NCAH) due to P450c21 (21-hydroxylase deficiency) is a common autosomal recessive disorder. This disorder is due to mutations in the CYP21A2 gene which is located at chromosome 6p21. The clinical features predominantly reflect androgen excess rather than adrenal insufficiency leading to an ascertainment bias ...
Selma F. Witchel +2 more
openaire +5 more sources