Congenital adrenal hyperplasia in siblings - case report
نویسندگان
چکیده
منابع مشابه
Iris mammillations in two female siblings with congenital adrenal hyperplasia.
Iris mammillations are dark brown, smooth, mound- or dome-shaped protuberances that are typically found on the anterior iris surface and are presumed to be congenital in origin. This congenital anomaly is usually unilateral and can be hereditary or sporadic. Lisch nodules in neurofibromatosis, tapioca melanoma of the iris, inflammatory iris granulomata and Cogan-Reese syndrome should be conside...
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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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A female with congenital adrenal hyperplasia and enamel defects involving the permanent maxillary incisors and all canines and premolars received composite veneer splint overlays under general anesthesia. Possible etiological factors involved in the formation of the enamel defects and overall case management is discussed.
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Congenital adrenal hyperplasia (CAH) describes a group of autosomal recessive disorders, each of which involves a deficiency of an enzyme involved in the synthesis of cortisol, aldosterone, or both. Classic CAH is rare, about 1 case per 16,000 population. However CAH with cholestatic jaundice is extremely rare. A 23 days old boy presented with vomiting, persistent jaundice. He was born at term,...
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The 47,XXX karyotype is a rare sex chromosome anomaly. This karyotype is usually not associated with a characteristic physical phenotype. In the presented case, a triple-X girl patient associated with 11beta-hydroxylase deficiency is identified. The case was referred to the Endocrinology Unit at six days of age because of ambiguous genitalia. The karyotype in this case was 47,XXX, an unexpected...
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ژورنال
عنوان ژورنال: Residência Pediátrica
سال: 2019
ISSN: 2236-6814
DOI: 10.25060/residpediatr-2019.v9n3-26