Results 21 to 30 of about 57,151 (301)
Obesity in 21-hydroxylase deficient patients [PDF]
Archives of Disease in Childhood, 1998 To evaluate the natural history and timing of adiposity rebound (nadir of body mass index (BMI)) in children with congenital adrenal hyperplasia 21-hydroxylase deficiency (CYP21).A retrospective mixed longitudinal study.Height and changes in body composition (BMI; weight (kg)/height2 (m)), triceps and subscapular skinfolds) were analysed in 22 (14 ...
R E, Cornean, P C, Hindmarsh, C G, Brook
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Tables and figures for "POR polymorphisms are associated with 21 hydroxylase deficiency" [PDF]
, 2022 Supplemental Figure 1 and Supplemental Table for "POR POLYMORPHISMS AFFECT CLINICAL FEATURES IN PATIENTS WITH 21 HYDROXYLASE DEFICIENCY" by Pecori Giraldi, Einaudi, Sesta, Verna, Messina, Manieri, Menegatti ...
Pecori Giraldi, Francesca
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11β-hydroxylase deficiency disorders [PDF]
, 2018 Congenital adrenal hyperplasia (CAH) is a family of autosomal recessive disorders which is characterized by a deficiency of one of the enzymes involved in the synthesis of cortisol from cholesterol by the adrenal cortex.
Nguyễn Thị Phương Mai +2 more
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Management issues of congenital adrenal hyperplasia during the transition from pediatric to adult care [PDF]
Korean Journal of Pediatrics, 2017 Steroid 21-hydroxylase deficiency is the most prevalent form of congenital adrenal hyperplasia (CAH), accounting for approximately 95% of cases. With the advent of newborn screening and hormone replacement therapy, most children with CAH survive into ...
Jin-Ho Choi, Han-Wook Yoo
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The frequency of late-onset 21-hydroxylase and 11 beta-hydroxylase deficiency in women with polycystic ovary syndrome [PDF]
, 1997 Objective: To determine the frequency of late-onset adrenal hyperplasia (LOCAH) due to 21-hydroxylase (21-OH) and 11 beta-hydroxylase (11 beta-OH) deficiency in women with clinical and biochemical features of polycystic ovary syndrome (PCOS)
Sahin, Yılmaz, Kelestimur, F
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CYP21A2 intronic variants causing 21-hydroxylase deficiency [PDF]
, 2017 Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder mainly caused by defects in the steroid 21-hydroxylase gene (CYP21A2). Most of CYP21A2 mutations result from intergenic recombinations between CYP21A2 and closely linked CYP21A1P ...
Cecilia Zuppi +16 more
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Congenital adrenal hyperplasia: focus on the molecular basis of 21-hydroxylase deficiency [PDF]
, 2007 Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by defects in one of several steroidogenic enzymes involved in the synthesis of cortisol from cholesterol in the adrenal glands.
Luís Moura +5 more
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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
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21-hydroxylase deficiency and fertility
Medical alphabet, 2020 21-hydroxylase deficiency is the most common genetically determined adrenal steroidogenesis defect. One of the consequences of the disease developing as a result of this defect, congenital dysfunction of the adrenal cortex (CDAC), is a decrease in fertility in the form of infertility or early pregnancy loss.
M. M. Amiraslanova, I. V. Kuznetsova
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Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency: A Practical Approach
Frontiers in Endocrinology, 2022 Adrenal insufficiency in paediatric patients is mostly due to congenital adrenal hyperplasia (CAH), a severe monogenic disease caused by steroid 21-hydroxylase deficiency (21-OHD, encoded by the CYP21A2 gene) in 95% of cases.
María Arriba +3 more
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