Gonadal macrophage infiltration in congenital lipoid adrenal hyperplasia
نویسندگان
چکیده
منابع مشابه
Gonadal macrophage infiltration in congenital lipoid adrenal hyperplasia.
OBJECTIVE Congenital lipoid adrenal hyperplasia (lipoid CAH) results in impairment of adrenal and gonadal steroidogenesis caused by STAR mutations. Our previous study revealed upregulation of genes associated with inflammatory or immune response and macrophage infiltration in the adrenal cortex of Star-knockout mice. This study aimed at investigating macrophage infiltration in the gonads from h...
متن کاملCongenital lipoid adrenal hyperplasia
Congenital lipoid adrenal hyperplasia (lipoid CAH) is the most fatal form of CAH, as it disrupts adrenal and gonadal steroidogenesis. Most cases of lipoid CAH are caused by recessive mutations in the gene encoding steroidogenic acute regulatory protein (StAR). Affected patients typically present with signs of severe adrenal failure in early infancy and 46,XY genetic males are phenotypic females...
متن کاملPhenotypic variability in congenital lipoid adrenal hyperplasia.
BACKGROUND Congenital lipoid adrenal hyperplasia presents with adrenal insufficiency and sex reversal in 46XY genetic males. CASE CHARACTERISTICS Two patients (46 XY karyotype), one having ambiguous genitalia and other having female external genitalia, presented with adrenal crisis at 6 months and 4 weeks of age, respectively. OBSERVATION Steroidogenic Acute Regulatory Protein gene sequenci...
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Congenital lipoid adrenal hyperplasia (CLAH) is the most severe form of congenital adrenal hyperplasia that caused by mutations in the steroidogenic acute regulatory protien (StAR). The mutations in StAR gene resulted in failure of the transport cholesterol into mitochondria for steroidogenesis in adrenal gland. Twin sisters (A, B) were born on 36 gestational week premature to nonrelated parent...
متن کاملA Case of Congenital Lipoid Adrenal Hyperplasia
Lipoid congenital adrenal hyperplasia (lipoid CAH), a rare disorder of steroid biosynthesis, is the most severe form of CAH. In this disorder the synthesis of glucocorticoids, mineralocorticoids and sex steroids is impaired which result in adrenal failure, severe salt wasting crisis and hyperpigmentation in phenotypical female infants irrespective of genetic sex. In this report, we presented a ...
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ژورنال
عنوان ژورنال: European Journal of Endocrinology
سال: 2016
ISSN: 0804-4643,1479-683X
DOI: 10.1530/eje-16-0194