Premature Pubarche: Time to Revise the Diagnostic Approach?

Premature pubarche (PP) could represent the first manifestation of non-classic congenital adrenal hyperplasia caused by 21 hydroxylase deficiency (NC21OHD) (10-30% of cases). In the last 20 years, the necessity of performing an ACTH test to diagnose NC21OHD in all cases with PP has been questioned, with conflicting results. This study aims to retrospectively evaluate the predictive value of the basal androgens, 17-OHP levels, and auxological features in suggesting the presence of NC21OHD and, thus, the need for a standard ACTH test to confirm the diagnosis.

A non-classical presentation of APECED in a family with heterozygous R203X AIRE gene mutation.

Purpose: Biallelic loss-of-function mutations of AIRE cause the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome. However, single nucleotide mutations may cause a milder phenotype. In this paper, we describe an unusual and mild phenotype in a mother and her two children (son and daughter) who carry a rare heterozygous mutation of AIRE.

Seronegative phenotype in a pediatric population with Hashimoto's thyroiditis.

Purpose: The aim was to verify in a pediatric population with Hashimoto's thyroiditis whether there is a relationship between antithyroid antibodies and inflammatory status on thyroid ultrasound and thyroid function.

Subjects And Methods: A total of 154 children and adolescents, aged 4 to 18 years, diagnosed with Hashimoto's thyroiditis with normal body weight were followed up for 1 year.

Results: Patients with only antiperoxidase antibodies presented with higher TSH levels than subjects with only antithyroglobulin antibodies (p 0.

Forearm Fractures in Overweight-Obese Children and Adolescents: A Matter of Bone Density, Bone Geometry or Body Composition?

Forearm fractures in children and adolescents are associated with increased body mass index (BMI). This bone site is non-weight-bearing and therefore is appropriate to explore the effect of BMI on bone mineral density (BMD) and bone geometry, avoiding the confounding effect of increased weight-associated mechanical loading. The aim of this review was to summarize available evidence on bone indices and body composition assessed by peripheral quantitative computed tomography (pQCT) or dual X-ray absorptiometry (DXA) at the forearm level in overweight (Ow) or obese (Ob) subjects.

Tissue sensitivity to thyroid hormones may change over time.

Introduction: Patients with congenital hypothyroidism (CH) may transiently show a certain degree of pituitary resistance to levothyroxine (LT4) which, however, normalizes subsequently. However, in some individuals, thyroid-stimulating hormone (TSH) fails to normalize despite adequate LT4 treatment.

Methods: Nine patients with CH followed in three Academic Centre who developed over time resistance to thyroid hormones underwent extensive biochemical and genetic analyses.

Parameters of Glucose Homeostasis in the Recognition of the Metabolic Syndrome in Young Adults with Prader-Willi Syndrome.

To verify the accuracy of different indices of glucose homeostasis in recognizing the metabolic syndrome in a group of adult patients with Prader-Willi syndrome (PWS), 102 PWS patients (53 females/49 males), age ±SD 26.9 ± 7.6 yrs, Body Mass Index (BMI) 35.

The Role of Different Indexes of Adiposity and Body Composition for the Identification of Metabolic Syndrome in Women with Obesity.

The aim of this study was to compare the accuracy of different indexes of adiposity and/or body composition in identifying the metabolic syndrome (MetS) in a group of 1528 Caucasian women with obesity: (age ± standard deviation (SD): 50.8 ± 14 years (range 18-83); body mass index (BMI) 43.3 ± 5.

Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients.

Background: Autoimmune Polyglandular Syndrome type 1 (APS-1) is a rare recessive inherited disease, caused by AutoImmune Regulator (AIRE) gene mutations and characterized by three major manifestations: chronic mucocutaneous candidiasis (CMC), chronic hypoparathyroidism (CH) and Addison's disease (AD).

Methods: Autoimmune conditions and associated autoantibodies (Abs) were analyzed in 158 Italian patients (103 females and 55 males; F/M 1.9/1) at the onset and during a follow-up of 23.

Primary Adrenal Insufficiency in Childhood: Data From a Large Nationwide Cohort.

Context: Primary adrenal insufficiency (PAI) is a rare and potentially life-threatening condition that is 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.

IGF1 for the diagnosis of growth hormone deficiency in children and adolescents: a reappraisal.

A number of studies have evaluated the role of IGF1 measurement in the diagnosis of growth hormone deficiency (GHD). This study aimed to evaluate the accuracy and the best cut-off of IGF1 SDS in the diagnosis of GHD in a large cohort of short children and adolescents. One-hundred and forty-two children and adolescents with GHD ((63 organic/genetic (OGHD), 79 idiopathic (IGHD)) and 658 short non-GHD children (median age 10.

Patients with chronic autoimmune thyroiditis are not at higher risk for developing clinically overt thyroid cancer: a 10-year follow-up study.

Objective: The association between chronic autoimmune thyroiditis (CAT) and differentiated thyroid cancer (DTC) remains controversial. The incidence of DTC increases when screening procedures are implemented, as typically occurs in CAT patients being routinely submitted to thyroid ultrasound (US). The aim of this study was to longitudinally evaluate the long-term development of DTC in patients with CAT.

Accuracy of Different Indexes of Body Composition and Adiposity in Identifying Metabolic Syndrome in Adult Subjects with Prader-Willi Syndrome.

(1) Objective: To compare the accuracy of different indexes of adiposity and/or body composition in identifying metabolic syndrome (MetS) in adult patients suffering from Prader‒Willi syndrome (PWS). (2) Study Design: One hundred and twenty PWS patients (69 females and 51 males), aged 29.1 ± 9.

Indexes of adiposity and body composition in the prediction of metabolic syndrome in obese children and adolescents: Which is the best?

Background And Aim: There is no agreement about which index of adiposity and/or body composition is the most accurate in identifying the metabolic syndrome (METS). The aim of our study was to compare the accuracy of the different indexes in order to recognize the most reliable.

Methods And Results: We evaluated 1332 obese children and adolescents (778 females and 554 males), aged 14.

Altered Thyroid Function and Structure in Children and Adolescents Who Are Overweight and Obese: Reversal After Weight Loss.

Context: Obesity is associated with hypothyroidism and goiter.

Objective: The aim of the study was to verify whether thyroid structure and function would improve after weight loss.

Design And Patients: We evaluated 96 children who were overweight/obese who showed an altered parenchymal pattern at thyroid ultrasound without circulating antithyroid antibodies.

Menstrual Cycle and Headache in Teenagers.

Objective: This population-based study on school-aged girls aimed to estimate the rate of peri-menstrual headache, evaluate headache pain pattern during the menstrual cycle, and verify its relationships with physical, psychosocial and life-style factors.

Methods: The students (n = 4973) fulfilled a self-administered questionnaire on demographic and behavioral characteristics, menarche, menstrual pattern and features including headache and dysmenorrhea. The prevalence of headache and the mean pain intensity score at the three menstrual cycle phases (premenstrual, menstrual, in-between period) were estimated, both overall and by gynecological year.

Age at Menarche and Menstrual Abnormalities in Adolescence: Does it Matter? The Evidence from a Large Survey among Italian Secondary Schoolgirls.

Objective: To explore the independent role of age at menarche on menstrual abnormalities among adolescents.

Methods: The present study was a multicenter cross-sectional study on a large sample (n = 3782) of Italian girls aged 13-21 y attending secondary school who already had menarche. Girls were asked to fill in a questionnaire on menarcheal age and menstrual features during the latest three menses.

Bone Geometry, Quality, and Bone Markers in Children with Type 1 Diabetes Mellitus.

Adults with Type 1 diabetes mellitus show a high risk of bone fracture, probably as a consequence of a decreased bone mass and microarchitectural bone alterations. The aim of the study was to investigate the potential negative effects of type 1 diabetes on bone geometry, quality, and bone markers in a group of children and adolescents. 96 children, mean age 10.

Pegvisomant-primed growth hormone (GH) stimulation test is useful in identifying true GH deficient children.

Objective: Provocative stimulation tests for growth hormone (GH) assessment have poor reproducibility and can often elicit false positive results in normal children. The aim of our study was to confirm the capability of pegvisomant as an enhancer of GH secretion in unmasking false-positive results in short children (height <-2.0 standard deviation score, SDS) undergoing GH testing.