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Showing 1 to 13 of 13 for “"congenital adrenal hyperplasia"”.
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Congenital adrenal hyperplasia: clinical and biochemical consequences of elevated adrenal steroid precursors
Contains fulltext : 201207.pdf (Publisher’s version ) (Open Access)
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Measuring steroids from dried blood spots using tandem mass spectrometry to diagnose congenital adrenal hyperplasia
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders that occur due to defects in the steroidogenesis pathway within the adrenal glands. CAH is characterized by numerous clinical manifestations resulting from dysregulation of various enzymes in the steroidogenesis …
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Health-Related Quality of Life in Female Children with Congenital Adrenal Hyperplasia: A Mixed Methods Study
… of health outcomes. However, in children with congenital adrenal hyperplasia (CAH), HRQOL is a long-neglected subject. Previous research in individuals with CAH typically focused on medical treatment and outcomes, which suggested that HRQOL is influenced by personal factors such as genital …
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The Use of Liquid Chromatography Tandem Mass Spectrometry to Improve Newborn Screening for Congenital Adrenal Hyperplasia in New Zealand
Newborn screening for congenital adrenal hyperplasia (CAH) prevents the severe clinical complications that can occur in babies with the condition in the first few weeks after birth. The screening test is the measurement of 17-hydroxyprogesterone (17OHP) by immunoassay in dried blood specimens …
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STUDIES ON THE SUBCELLULAR LOCALIZATION OF 3-BETA- HYDROXYSTEROID DEHYDROGENASE IN STEROIDOGENIC CELLS
… deficiencies in HSD3B lead to disorders such as congenital adrenal hyperplasia and disrupted sexual development. There are several isoforms of HSD3B in mice and humans that show distinct tissue expressions in organs like the adrenal cortex and gonads. However, its subcellular localization that …
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Early Androgen Exposure, Gender, and Disorder-Relevant Traits
… high levels of androgens prenatally due to congenital adrenal hyperplasia (CAH), a rare clinical condition occurring in approximately 1 in 18,000 births. Findings from these two chapters converge to show that any relationship between early androgen exposure and subsequent development of …
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Η επίδραση της κετοκοναζόλης στην ιδιοπαθή ορμονοεξαρτώμενη τριχοφυΐα
… due to diseases such as polycystic ovarian, congenital adrenal hyperplasia etc. Following the exclusion of these forms 43 women remained which were considered as having idiopathic type of hirsutism. The study of the hormonal profile included measurements of Testosterone, DHEA-S, SHBG and …
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Clinical Characterization of Children and Adolescents with Disorders of Sex Development Atending a Tertiary Centre in the Western Cape, South Africa
… 27 (64.3%) had ovotesticular DSD, 8 (19.0%) congenital adrenal hyperplasia (CAH), 5(12.0%) testicular DSD, and 2(4.7%) gonadal dysgeneses. Conclusion: In our cohort, 46, XY DSD predominated. Concordance between the sex assigned at birth and the gender of rearing after evaluation was 79.1%. …
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Mechanistic Studies of Two Steroidogenic Cytochromes P450, CYP17A1 and CYP21A2
… – deficiency in this enzyme leads to congenital adrenal hyperplasia. Intermolecular and intramolecular kinetic isotope effects were determined for both enzymes, which required the synthesis of regioselectively deuterated steroids: 17alpha-[2H]-progesterone, 17alpha-[2H]-pregnenolone, …
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Innleiðing einnar mæliaðferðar á LC-MS/MS fyrir átján sterahormón
The adrenal glands along with the gonads and the placenta, produce and secrete steroid hormones. Cholesterol is the precursor for all steroid hormones. The human steroidogenesis can be separated into three major pathways, glucocorticoids, mineralocorticoids and finally sex steroids (adrenal …
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Trophoblast Retrieval And Isolation From The Cervix (tric) For Non-Invasive Prenatal Genetic Diagnosis And Prediction Of Abnormal Pregnancy Outcome
… pregnancy in which both parents were carriers of congenital adrenal hyperplasia (CAH). Early identification of male fetuses with TRIC PGD could eliminate the need for unnecessary prophylactic administration of high-dose dexamethasone prenatally to prevent the virilization of a female fetus.</p>
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Investigating the maintenance of the mouse definitive adrenal cortex
The adrenal gland is an important endocrine organ, protecting the body against acute and chronic stress. The adrenal cortex consists of three morphologically and functionally distinct zones: the outer zona glomerulosa (zG), the zona fasciculata (zF), and the innermost zona reticularis (zR). In …
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Cardiometabolic aspects of polycystic ovary syndrome
… and with the exclusion of other aetiologies (congenital adrenal hyperplasia, androgen-secreting tumors, Gushing's syndrome). These features include (l)Oligo- or anovulation (2)Clinical and/or biochemical signs of hyperandrogenism and (3)Polycystic ovaries (either 12 or more follicles measuring …