HLA typing as a method of genetic counselling in congenital adrenal hyperplasia
نویسندگان
چکیده
منابع مشابه
HLA typing as a method of genetic counselling in congenital adrenal hyperplasia.
diarrhoea in young children. Acta Paediatr Scand 1981; 70: 107-13. 6 Davidson G P, Barnes G L. Structural and functional abnormalities of the small intestine in infants and young children with rotavirus enteritis. Acta Paediatr Scand 1979; 68: 181-6. 7 Sladen G E, Dawson A M. Interrelationships between the absorptions of glucose, sodium, and water by the normal human jejunum. Clin Sci 1969; 36:...
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Congenital adrenal hyperplasia (CAH) is a group of hereditary diseases, which are autosomal recessive. CAH occurs due to defect in one of the cortisol coding genes and often clinically presents itself with signs of androgen overproduction. In this article, we report a case of CAH and Schmid metaphyseal dysplasia. Our literature review indicated that this report is the first attempt on CYP11B1 a...
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noradrenaline release.8.9 While clonidine and the opiates have similar effects on the locus coeruleus, clonidine appears to exert specific effects through non-opiate, alpha-2 adrenergic receptors. 6, These data suggested that the opiate-withdrawal syndrome is due to increased noradrenergic neuronal activity in areas such as the locus coeruleus which are regulated both by alpha-2 adrenergic and ...
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We report on a patient with genetically confirmed adrenal hypoplasia congenita (AHC) whose presentation and laboratory abnormalities were consistent with the more common condition, congenital adrenal hyperplasia (CAH). The patient presented with failure to thrive and salt wasting. General appearance showed marked hyperpigmentation and normal male genitalia. He displayed mildly elevated 17-hydro...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 1982
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.57.4.315