No abstract

Context Primary adrenal insufficiency (PAI) is a rare and potentially life-threatening condition, poorly characterized in children. Objective to describe causes, presentation, auxological outcome, frequency of adrenal crisis and mortality of a large cohort of children with PAI. Patients and methods data from 803 patients from 8 centers of Pediatric Endocrinology were retrospectively collected. Results the following etiologies were reported: 85% (n=682) Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD); 3.1% (n=25) X linked Adrenoleukodystrophy; 3.1% (n=25) Autoimmune Polyglandular syndrome type 1; 2.5% (n=20) autoimmune AI; 2% (n=16) Adrenal Hypoplasia Congenital; 1.2% (n=10) CAH non 21-OHD; 1% (n=8) rare syndromes; 0.6% (n=5) Familial Glucocorticoid Deficiency; 0.4% (n=3) acquired AI; 9 patients (1%) did not receive diagnosis. Since 21-OHD CAH has been extensively characterized, it was not further reviewed. In 121 patients with a diagnosis different from 21-OHD CAH, the most frequent symptoms at diagnosis were fatigue (67%), hyperpigmentation (50.4%), dehydration (33%) and hypotension (31%). Elevated ACTH (96.4%) was the most common laboratory finding followed by hyponatremia (55%), hyperkalemia (32.7%) and hypoglycemia (33.7%). The median age at presentation was 6.5±5.1 years (0.1-17.8 years) and the mean length of symptoms before diagnosis was 5.6±11.6 months (0-56 months) depending on etiology. Rate of adrenal crisis was 2.7 per 100 patients years. Three patients died for the underlying disease. Adult height, evaluated in 70 patients, was -0.70±1.20 SDS. Conclusions we characterized one of the largest cohorts of children with PAI aiming to improve the knowledge on diagnosis of this rare condition.

PCOS patients were frequently characterized by lower plasma vitamin D levels. The mechanisms involved in this dysfunction remains still debated, therefore we evaluated the role of androgen, insulin and body weight on the serum VitD levels in women with or without PCOS. Eighty one patients 18-42 yrs old were studied into "SUMMER" and "WINTER" seasonal period: thirty seven PCOS, seventeen no-ovarian hyperandrogenic (noPCOS), twelve functional hypothalamic amenorrhea (FHA) and finally fifteen healthy (Con). Patients were further divided into: lean (L), obese (O), normo- (nINS) and hyperinsulinemic (hINS). All hormonal and metabolic parameters were measured at 1-7 days of the menstrual cycle. Our results show that VitD levels were lower in PCOS and in noPCOS than in FHA and Con, in particular in (O) and (hINS) PCOSs. Both in summer and in winter, PCOSs had basal VitD levels significantly lower than FHA and Con, whereas they were similar to noPCOS. Yet, LhINS and OPCOS had VitD levels lower than Con and noPCOS. VitD levels were comparable in LnINS PCOS and Con. In conclusion, PCOSs had levels of VitD lower than controls. Weight and hyperinsulinemia had a significant influence on these values. Finally, over 70% of our healthy patients had VitD deficiency.

This is a retrospective multicenter nationwide Italian study collecting neonatal anthropometric data of Caucasian subjects with Prader-Willi syndrome (PWS) born from 1988 to 2018. The aim of the study is to provide percentile charts for weight and length of singletons with PWS born between 36 and 42 gestational weeks. We collected the birth weight and birth length of 252 male and 244 female singleton live born infants with both parents of Italian origin and PWS genetically confirmed. Percentile smoothed curves of birth weight and length for gestational age were built through Cole's lambda, mu, sigma method. The data were compared to normal Italian standards. Newborns with PWS showed a lower mean birth weight, by 1/2 kg, and a shorter mean birth length, by 1 cm, than healthy neonates. Females with a 15q11-13 deletion were shorter than those with maternal uniparental maternal disomy of chromosome 15 (p < .0001). The present growth curves may be useful as further traits in supporting a suspicion of PWS in a newborn. Because impaired prenatal growth increases risk of health problems later in life, having neonatal anthropometric standards could be helpful to evaluate possible correlations between the presence or absence of small gestational age and some clinical and metabolic aspects of PWS. K E Y W O R D Sgrowth, newborn, percentiles, Prader-Willi