Congenital Adrenal Hyperplasia with Salt Wasting Crisis: A Case Report
Journal of Nepal Medical Association, 2020 Congenital Adrenal Hyperplasia is a group of autosomal recessive disorders due to deficiencies of enzymes involved in steroidogenesis. The most common form is a 21-hydroxylase deficiency which can be classical or non-classical.
Deependra Mandal +3 more
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Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single center [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2013 PurposeThe purpose of the study was to evaluate endocrine patterns of patients with congenital adrenal hyperplasia and each gene mutation and to analyze the correlation between each phenotype and genotype.MethodsThis was a retrospective study of the ...
Yangho Yoo +6 more
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Noninvasive prenatal diagnosis of 21-Hydroxylase deficiency using target capture sequencing of maternal plasma DNA. [PDF]
, 2017 Here, we aimed to validate a noninvasive method using capture sequencing for prenatal diagnosis of congenital adrenal hyperplasia due to 21-Hydroxylase deficiency (21-OHD).
Asan +16 more
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Growth Pattern of Untreated Boys with Simple Virilizing Congenital Adrenal Hyperplasia Indicates Relative Androgen Insensitivity during the First Six Months of Life [PDF]
, 2010 Context: Mild forms of simple virilizing congenital adrenal hyperplasia (CAH) may be missed in newborn screening. In the pre-newborn-screening era, missed diagnosis of simple virilizing CAH was not infrequent in boys.
Bonfig, W., Schwarz, H. P.
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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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Biomédica: revista del Instituto Nacional de Salud, 2005 lntroducción. La hiperplasia suprarrenal congénita es un trastorno autosómico recesivo debido a la inadecuada secreción de cortisol. Mas del 95% de los casos de hiperplasia suprarrenal congénita son causados por defectos del gen de la 21 hidroxilasa ...
Dora Fonseca +6 more
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Congenital Adrenal Hyperplasia Presenting as Life Threatening Hyponatremic Dehydration: A Tale of Missed Diagnosis [PDF]
Journal of Clinical and Diagnostic ResearchCongenital Adrenal Hyperplasia (CAH) is a group of autosomal recessive disorders that occur due to defects in steroid synthesis. It is characterised by a deficiency of adrenocortical hormones and an excess of steroid precursors.
Dinkar Yadav +3 more
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Journal of Medical Case Reports, 2013 Introduction We report the case of a patient with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency who presented with unusual anatomical and biochemical features, namely massively enlarged adrenal glands, adrenogenital rest ...
Ferreira Florbela +5 more
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The "backdoor pathway" of androgen synthesis in human male sexual development. [PDF]
, 2019 Mammalian sex determination (male versus female) is largely controlled by genes, whereas sex differentiation (development of reproductive structures) is largely controlled by hormones. Work in the 20th century indicated that female external anatomy was a
Auchus, Richard J, Miller, Walter L
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Congenital clitoromegaly in an adult
The Pan African Medical Journal, 2019 Clitoromegaly is an abnormal enlargement of the clitoris. In adult, dimensional criteria are, according to Brodie, a minimum length hood and width of 27.4mm and 8mm.
Mohammed Alae Touzani, Imad Ziouziou
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