Title Page / Table of Contents

2012 Hormone Research in Paediatrics  
It has been reported, in literature, that girls born small for gestational age (SGA) and obese girls present more frequently precocious adrenarche (PA) with respect to normal weight girls and those born appropriate for gestational age (AGA). Objective: To compare, retrospectively, girls with isolated PA with respect to gestational age, body mass index (BMI), DHEAS, Delta4 androstenedione, insulin and basal 17OHP levels and after a standard ACTH test. Subjects and Methods: Forty-one patients
more » ... GA) with PA(chronological age <8.0 yrs) were evaluated for weight, height, bone age and BMI . Androgens and insulin concentrations were assessed for all children by commercial Kits. Statistical analysis was performed and data were expressed as median (minimum and maximum range). Results: BMI-SDS (1.7 -range 0.1-2; and 1.5 -range 0.1-2.5) and bone age/ chronological age ratio (1.3 vs 1.2) were superimposable in SGA and AGA girls. Respectively 27% of SGA and 30% of AGA were obese (BMI>2SDS). Basal 17OHP serum levels (0.9-range 0.4-1.4 vs 0.7 range 0.2-1.1 ng/ml) and Delta 4 (1.7,range 0.8-2.6 vs 1.6, range 0.2-2.5ng/ml) were similar in both groups. We found a statistical difference in basal DHEAS (292, range 189-410 vs 206.5, range 76-426 µg/dl; p<0.005) and insulin levels (5.7, range 3.8-9.3 vs2.9, range 1.2-5.6 µU/ml; p<0.001), and in stimulated 17OHP levels (5.2, range 2.4-7.8 vs 3.9, range 1.7-6,7 ng/ml; p<0.05). Conclusions: Overweight/obesity, present in our subjects, could be considered the most important factor for premature adrenarche. Insulin, DHEAS and ACTH stimulated 17OHP levels are significantly different in SGA vs AGA girls with isolated PA. Weight at birth and rapid infancy weight gain may be considered as risk factors for precocious increased levels of adrenal steroids in SGA girls. Background: Combined 17 alpha-hydroxylase/17,20-lyase deficiency is a rare form of congenital adrenal hyperplasia characterized by hypokalemia, hypertension and sexual infantilism. It is considered a disorder of sexual development (DSD) which causes lack of virilization in 46, XY individuals. The disease is inherited in an autosomal recessive pattern and is caused by mutations in the gene encoding cytochrome P450c17 (CYP17A1). Objective and hypotheses:We analyzed the CYP17A1 gene in a Kuwaiti girl with 17 alpha-hydroxylase/17, 20-lyase deficiency. Methods: A 4-year-old (46, XY) female child born to consanguineous parents, presented with irregular heartbeats, hyper pigmentation, failure to thrive and developmental delay. Laboratory data showed hypokalemia, metabolic alkalosis with low plasma levels of cortisol, rennin and aldosterone and markedly elevated levels of 11-deoxycorticosterone and corticosterone. Serum levels of dehydroepiandrosterone (DHEA), androstenedione and testosterone were undetectable and did not show any response to ACTH stimulation. Results: Sequencing analysis of CYP17A1 gene revealed a homozygous mutation, p.A82D, changing codon 82 (GCC) encoding alanine to GAC encoding asparagic acid in the patient, while the parents were heterozygous for the same mutation. Conclusions: This is the first report from Kuwait with a homozygous mutation in CYP17A1 causing combined loss of 17 alpha-hydroxylase/17, 20-lyase enzyme deficiency. __________________________________________________ __________________________________________________ ___________________ Horm Res 2012;78(suppl 1) Diabetology, Warsaw Poland and the right adrenal was surgically removed. Histopathological examination revealed adrenocortical carcinoma. The patient was qualified to antineoplastic therapy. Conclusions: Adrenocortical carcinoma may be rare cause of precocious puberty. Background: Application of topical steroids due to a dermatologic condition for a long time period suppresses the hypotalamic-pituitary-adrenal (HPA) axis. The patients may develop Cushing syndrome or adrenocortical insufficiency. Objective and hypotheses: A four year old boy presented at our departements with simptoms of Cushing's disease and erythrodermia psoriatica. Previously he was treated for 1, 5 years with glucocorticosteroid creams prescribed for his skin condition by his local dermatologist. His father has also psoriasis vulgaris. The boy's height and weight were at the 50 th percentile at the growth curve. His skin was thin, coarse, and with generalised erythema. Methods: Serum AST, ALT, lipids, glycemia, morning cortisol and ACTH levels were measured. A low dose ACTH stimulation test was carreid out. Hydrocortisone was started for the prevention of glucocorticoid withdrawal syndrome and dose was gradually decreased. Results: Cortisol levels were very low in this child below 1,0 ug/dl and after two weeks of treatment increased to 2,8 ug/dl. It had normal values after one month. The ACTH stimulation test showed suppression of the H-P-A axis. His skin codition was treated by clinical dermatologists. Conclusions: The side-effects of topical steroids are dangerous. Collaboration must exist between the physicians of different branches to avoid such coditions. Background: Triple A syndrome is a rare autosomal disorder characterized by adrenal insufficiency, alacrimia, achalasia, and impairment of nervous system. ENT manifestations have never been reported Objective: To describe two patients with ENT signs as first manifestation referring to hospital Cases report: 3 year old boy born from non-consanguineous Mediterranean parents was referred to our clinic for hypoglycemia and acute adrenal insufficiency. The patient and his 6 year old brother had a history of atypical chronic nasal and sinus scabby obstruction, with pyocyanic infection. Nor etiology nor efficient treatments were proposed. The identification of alacrimia and dysmorphic face raised the suspicion of triple A syndrome which was confirmed by the presence of homozygous c.1331+1G>A mutation in AAAS gene in both children. Complementary investigations identified achalasia of the cardia and soft peripheral motor neuropathy in the 2 brothers and no mental retardation. Partial unilateral soft palate palsy was identified in the older patient but not in the younger one. Adrenal insufficiency was confirmed as well as in the older brother and glucocorticoid therapy was initiated for both. With gastric anti-secreting therapy and local nasal corticosteroid, nasal obstruction dramatically resolved. Conclusion: These unusual ENT manifestations have not yet been reported in Triple A to our knowledge. We hypothesize that alacrimia with dry mucous membrane, achalasia with gastro esophageal reflux and soft palate dysfunction participated in its pathophysiology.
doi:10.1159/000340003 fatcat:bqpeutzmlfculnm3636ryjkqhe