Results 41 to 50 of about 401,716 (213)
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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Clinical, genetic, and functional characterization of four patients carrying partial loss-of-function mutations in the steroidogenic acute regulatory protein (StAR) [PDF]
, 2010 Context: Nonclassic congenital lipoid adrenal hyperplasia (lipoid CAH) is a recently recognized disorder caused by mutations in the steroidogenic acute regulatory protein (StAR) that retain partial function.
Miller, W. L. +15 more
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THE 17-HYDROXYPROGESTERONE LEVEL, ANDROSTENEDIONE LEVEL, AND SIDE EFFECTPOST HYDROCORTISONE THERAPY OF CONGENITAL ADRENAL HYPERPLASIA PATIENTS [PDF]
, 2010 Background: Congenital Adrenal Hyperplasia (CAH) is the most common 46,XX DSDs, which occurred when one of the enzymes required for cortisol and aldosterone synthesis in adrenal gland is deficit, therefore performed adrenal hormone imbalance.
Pratami, R. Rizcky Erika
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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
doaj +1 more source
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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Mutations Of Pro30Leu And Val281Leu Of The Cyp21 Gene In Patients Diagnosed With Ambiguous Genitalia. [PDF]
, 2002 Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of adrenal ...
Muhamad, Y.K. +5 more
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IJU Case Reports, 2020 Introduction Congenital lipoid adrenal hyperplasia is a rare disease that causes disorders of sex development. The 46,XY patient presents with female external genitalia and inguinal testes. We describe the case of a patient with congenital lipoid adrenal
Kanako Matsuoka +8 more
doaj +1 more source
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 +2 more sources
Cortisol and 17-hydroxyprogesterone levels in saliva of healthy neonates - Normative data and relation to body mass index, arterial cord blood pH and time of sampling after birth [PDF]
, 2000 The measurement of cortisol and 17-hydroxyprogesterone (17-OHP) in saliva has become a reliable tool for both the scientist and the clinician for studying adrenal cortical function in the adult and the older child.
Meyer, Kerstin +9 more
core +1 more source