The classical form of congenital adrenal hyperplasia-clinical characteristics and genetic analysis
نویسندگان
چکیده
منابع مشابه
Non-Classical Congenital Adrenal Hyperplasia in Childhood
Congenital adrenal hyperplasia (CAH) is classified as classical CAH and non-classical CAH (NCCAH). In the classical type, the most severe form comprises both salt-wasting and simple virilizing forms. In the non-classical form, diagnosis can be more confusing because the patient may remain asymptomatic or the condition may be associated with signs of androgen excess in the postnatal period or in...
متن کاملCongenital Adrenal Hyperplasia and Schmid Metaphyseal Chondrodysplasia in a Child
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...
متن کاملFour Clinical Variants of Congenital Adrenal Hyperplasia.
Three clinical types of congenital adrenogenital virilism due to adrenal hyperplasia have now been well defined. These are simple virilization, virilization with excessive sodium loss and danger to life and virilization combined with hypertension. Clinical subvariants have also been described in association with hypoglycaemia (White and Sutton, 1951; Wilkins, Crigler, Silverman, Gardner and Mig...
متن کاملIncidence of salt-losing form of congenital virilizing adrenal hyperplasia.
Isdale, J. M. (1970). Interstitial emphysema of the stomach. British journal of Radiology, 43, 146. Sisk, P. B. (1961). Gas in the portal venous system. Radiology, 77, 103. Susman, N., and Senturia, H. R. (1960). Gas embolization of the portal venous system. American j'ournal of Roentgenology, 83, 847. Touloukian, R. J., Berdon, W. E., Amoury, R. A., and Santulli, T. V. (1967). Surgical experie...
متن کاملClassic congenital adrenal hyperplasia.
Congenital adrenal hyperplasia is attributed to inherited enzyme defects in the adrenal cortex. The classical form results in reduced production of cortisol and aldosterone, accompanied by an increase in production of adrenal cortical androgens. This causes virilisation in girls, adrenocortical failure and early puberty in both sexes. This article describes the genetics, clinical picture, diagn...
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ژورنال
عنوان ژورنال: Endocrine Abstracts
سال: 2016
ISSN: 1479-6848
DOI: 10.1530/endoabs.41.ep39