ABSTRACT
INTRODUCTION: Inactivating mutations in the enzyme hexose-6-phosphate dehydrogenase (H6PDH), the enzyme responsible for NADPH generation playing critical role in 11-hydroxysteroid dehydrogenase type 1 (11b-HSD1) activity, cause apparent cortisone reductase deficiency (ACRD). It leads to increased metabolic clearance rate of cortisol due to a defect in cortisone to cortisol conversion by 11b-HSD1. We want to analyse the process of the disease, efficacy of long-lasting treatment with glucocorticoids throughout childhood and adolescence in only male patient with ACRD. CASE PRESENTATION: A 23 year-old male patient was diagnosed with ACRD at the age of 7 years. The clinical manifestation of ACRD was presented by precocious pubarche. His bone age was assessed as 11.5 years old. Blood tests indicated increased the plasma androgen, with elevated 17-hydroxyprogesterone concentration. A steroid profile analysis of a 24-h urine collection showed extremely reduced THF + allo-THF/THE ratio - 0.021 (normal range: 0.7-1.2). Two months of hydrocortisone therapy was ineffective and dexamethasone was administered in initial dose of 0.375 mg/24 h. Next dosage beetwen 0.125 mg/24h and 0.375 mg/24h has been changed depending on the patient's results of laboratory tests and condition. Control laboratory studies indicated suppression of excess adrenal androgen synthesis, but we never got the THF + allo-THF/THE ratio in normal values. He did not develop any serious side effects, although dexamethasone is the most potent adrenal suppression drug. CONCLUSIONS: Hydrocortisone treatment is ineffective in ACRD patients because it was rapidly metabolized to cortisone. We have found the balance between the dexamethasone treatment effects of adrenal suppression and the achievement of full height potential considering the condition of our patient.
Subject(s)
11-beta-Hydroxysteroid Dehydrogenases/deficiency , 46, XX Disorders of Sex Development/diet therapy , 46, XX Disorders of Sex Development/genetics , Adrenal Cortex Hormones/therapeutic use , Carbohydrate Dehydrogenases/genetics , Dexamethasone/therapeutic use , Hirsutism/congenital , Receptors, Glucocorticoid/therapeutic use , Steroid Metabolism, Inborn Errors/diet therapy , Steroid Metabolism, Inborn Errors/genetics , 11-beta-Hydroxysteroid Dehydrogenases/genetics , Child , Follow-Up Studies , Hirsutism/diet therapy , Hirsutism/genetics , Humans , Male , Mutation , Young AdultABSTRACT
BACKGROUND: Adenocorticotropic hormone (ACTH)-dependent Cushing's syndrome in infancy is extremely rare. We describe the case of a sacro-coccygeal ectopic ACTH-secreting immature teratoma in an infant who also presented the triad of defects characteristic of Currarino syndrome. CASE PRESENTATION: A girl was born with a large immature teratoma in the sacro-coccygeal region associated with anal atresia. At the age of 7 days, the concentration of α-fetoprotein (AFP) was above the age-specific normal range. Two non-radical surgical excisions of the tumour were performed. At the age of 7 months, she developed polyphagia, acne, hirsutism, hypertension and hypokalemia with elevated ACTH and absence of serum cortisol circadian rhythm. Immunostaining of tumour tissue showed ACTH-immunoreactive cells. Due to unsuccessful therapy with ketoconazole and resistance to antihypertensive medications [blood pressure (BP) 210/160 mmHg], metyrapone was administered, which controlled her ACTH and cortisol levels in the normal range. Following further removal of tumour bulk after three operations during the first year of life, there was a decrease of BP to normal values. CONCLUSIONS: A rare case of ectopic ACTH syndrome causing Cushing's syndrome in infancy in the context of Currarino syndrome is reported. Radical surgery has resulted in excision of the tumour and current control of Cushing's syndrome.
Subject(s)
ACTH Syndrome, Ectopic/complications , Adrenocorticotropic Hormone/metabolism , Coccyx/pathology , Cushing Syndrome/etiology , Sacrum/pathology , Teratoma/pathology , ACTH Syndrome, Ectopic/blood , ACTH Syndrome, Ectopic/therapy , Adult , Child, Preschool , Coccyx/metabolism , Cushing Syndrome/blood , Cushing Syndrome/therapy , Female , Humans , Prognosis , Sacrum/metabolism , Teratoma/metabolismABSTRACT
Anemia is the most common disorder of the blood with iron deficiency being the predominant cause. On the other hand, diabetes prevalence is increasing rapidly. Over time, diabetes can damage the heart, blood vessels, eyes, kidneys, and nerves. Diabetic kidney disease (DKD) may be present in both types 1 and type 2 diabetes mellitus. Anemia is one of the common feature of chronic kidney disease. The epidemiological data on anemia prevalence are limited. In this review data on epidemiology, pathogenesis, complication and treatment of anemia in diabetic kidney disease are presented.
