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Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database 16730 adrenocortical unresponsiveness to ACTH Eponyms: Inheritance: adrenal glands absence adrenocortical unresponsiveness to ACTH glucocorticoid deficiency isolated MC2R Migeon syndrome autosomal recessive genetic heterogeneity supposed X-linked recessive Semeiological Endocrinal disorder, isolated defect.Late infancy onset; skin/gums hyperpigmentation, seizures due to recurrent hypoglycemia, lethargy. Synthesis: Group Sub group Signs: DERMATOLOGICAL DISORDERS pigmentation changes cutis, hyperpigmentation LABORATORY DATA adrenal changes adrenal dysfunction adrenocortical unresponsiveness to ACTH glucocorticoid deficiency adrenal cortex hormones adrenal insufficiency, adrenal hypoplasia aldosterone, low levels biochemical markers metabolic defect chromosomal assignment chromosome 18p localization gene, structural-functional anomalies gene analysis-DNA analysis MC2R melanocortin-2 receptor (ACTH receptor), gene chr.18p11.2 lymphoreticular system, changes monocytes-macrophage disorders pituitary hormones, modified functions pituitary adrenocorticotropic hormone (ACTH), high levels vasopressin unresponsivity plasma nonprotein-organic constituents, anomalies hypoglycemia plasma proteins, anomalies hormones, dysfunctions steroidogenesis defects NEUROLOGICAL DISORDERS mental retardation mental retardation neurological dysfunctions seizures, convulsions, epilepsy performance changes, not including mental retardation stupor, lethargy, including coma OROCRANIOFACIAL ANOMALIES oral mucous membrane,changes oral pigmentation, gingival pigmentation OTHERS inheritance inheritance, autosomal recessive inheritance, genetic heterogeneity adrenocortical unresponsiveness to ACTH Page 1 of 2 Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database Super group: Super aggreg. METABOLIC DISORDERS hormones, dysfunctions Aggregations: steroidogenesis defects Differential diagnosis: Bibliography 590 710 730 28526 755 750 7600 20580 27968 ACTH deficiency, isolated adrenal hyperplasia II adrenal hyperplasia IV adrenal hypoplasia, cytomegalic type adrenal hypoplasia, familial congenital adrenal hypoplasia , X-linked dicarboxylic aminoaciduria periorbital hyperpigmentation Yamaoka syndrome OMIM ID: 202200 OMIM ID: 300250 OMIM ID: 607397 adrenocortical unresponsiveness to ACTH Page 2 of 2
