ABSTRACT
A insuficiência adrenal (IA) consiste em síndrome clínica rara, decorrente da deficiência de glicocorticoides e/ou mineralocorticoides, podendo ser primária. A insuficiência adrenal aguda consiste em emergência endócrina rara, resultante da diminuição súbita do cortisol circulante, ou de aumento significativo da demanda por esse hormônio em pacientes com algum grau de disfunção adrenal, ocorrendo mais frequentemente no contexto da IA primária. O prognóstico da doença depende do reconhecimento e intervenção terapêutica precoces
Adrenal insuficiency (AI) consists of a rare clinical syndrome resulting from glucocorticoids and/or mineralocorticoids deficiency. Adrenal insufficiency may be primary. The acute AI is a rare endocrine emergency resulting from sudden decrease of circulating cortisol or, elevated demand for this hormone in patients with some degree of adrenal disfunction, occuring more frequently in primary AI. The prognosis depends on early recognition and precocious therapeutic intervention
Subject(s)
Humans , Male , Female , Glucocorticoids/deficiency , Adrenal Insufficiency/diagnosis , Adrenal Insufficiency/therapy , Mineralocorticoids/deficiency , Acute Disease , Adrenal Cortex/physiopathology , Addison Disease/therapy , Glucocorticoids/administration & dosage , Hydrocortisone/therapeutic use , Adrenocorticotropic Hormone , Mineralocorticoids/administration & dosage , Endocrine System/physiopathology , Clinical Laboratory Techniques/methodsSubject(s)
Humans , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Hydrocortisone/therapeutic use , Adrenal Cortex Function Tests/methods , Adrenal Insufficiency/diagnosis , Adrenal Insufficiency/etiology , Adrenal Insufficiency/drug therapy , Glucocorticoids/deficiency , Hypothalamo-Hypophyseal System/physiopathologyABSTRACT
Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterized by severe glucocorticoid deficiency associated with failure of adrenal responsiveness to ACTH but no mineralocorticoid deficiency. We report a 2 month-old boy of nonconsanguineous parents, presented with hyperpigmentation. Physical examination showed diffuse dark skin of body including, oral mucosa, gum, hands, nails and scrotum. Laboratory evaluation revealed low serum cortisol (0.3 microgram/dL), with very high plasma ACTH level (18,000 pg/mL), and serum cortisol level did not increase after ACTH stimulation test. Serum sodium, potassium, plasma renin activity, aldosterone and 17-hydroxyprogesterone were normal. Sequence analysis of the ACTH receptor (MC2R) gene showed a homozygous mutation of D103N. Diagnosis of FGD was made and treatment started with oral hydrocortisone.
Subject(s)
Humans , Infant , Male , Adrenal Gland Diseases/genetics , Amino Acid Substitution , Anti-Inflammatory Agents/therapeutic use , Glucocorticoids/deficiency , Homozygote , Hormone Replacement Therapy , Hydrocortisone/therapeutic use , Point Mutation , Polymerase Chain Reaction , Receptor, Melanocortin, Type 2/genetics , Sequence Analysis, DNASubject(s)
Addison Disease/blood , Adrenocorticotropic Hormone/blood , Anti-Inflammatory Agents/therapeutic use , Drug Monitoring/methods , Esophageal Achalasia/blood , Glucocorticoids/deficiency , Humans , Hydrocortisone/blood , Lacrimal Apparatus Diseases/blood , Prednisolone/therapeutic use , SyndromeABSTRACT
We report three brothers with Allgrove syndrome. All three had evidence of adrenal insufficiency and deficient tear production, though neither of them had achalasia, the third component of the disorder at the time of this report. Neurological abnormalities were present in the index case. The younger siblings were neurologically normal. The familial association of achalasia, alacrimia and adrenal insufficiency, rather than being fortuitous, is a distinct clinical entity.