hrp0082p3-d2-969 | Sex Development (1) | ESPE2014

A Challenging Diagnosis in Three 46,XY Females from Two Related Families

Mase Raffaella Di , Improda Nicola , Cerbone Manuela , De Martino Lucia , Capalbo Donatella , Baldazzi Lilia , Salerno Mariacarolina

Background: Mutations in the 17β-hydroxysteroid dehydrogenase (17βHSD 3) result in 46,XY disorder of sex development (DSD). Biochemical hallmark of 17βHSD 3 deficiency is a Testosterone/Androstenedione ratio (T/A ratio) <0.8. 17βHSD 3 mutations have been associated with a wide spectrum of phenotypes, ranging from under-virilized male to a female appearance of genitalia at birth. Indeed, 17βHSD 3 deficiency in prepubertal patients is often clinicall...

hrp0084p2-182 | Adrenals | ESPE2015

Insulin Sensitivity and Adipocytokynes in Children with Classical Congenital Adrenal Hyperplasia

Improda Nicola , Cerbone Manuela , Esposito Andrea , Barbieri Flavia , Mase Raffaella Di , Capalbo Donatella , Salerno Mariacarolina

Background: Recent studies demonstrate that children with Congenital Adrenal Hyperplasia (CAH) may develop visceral adiposity and insulin-resistance. Data on adipocytokines are scanty and contradictory.Objective: To evaluate leptin and adiponectin concentrations in CAH adolescents and investigate their correlation with glucocorticoids and hormonal and metabolic profile.Methods: Leptin, adiponectin, insulin and HOMA were evaluated i...

hrp0094p2-293 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Effects of GH replacement therapy on body composition and muscle health in children and adolescents with GH deficiency: one-year prospective case-control study.

Improda Nicola , Capalbo Donatella , Di Mase Raffaella , Di Pinto Rosita , Alicante Paola , Scalfi Luca , Salerno Mariacarolina ,

Background: The effects of GH deficiency (GHD) and GH replacement therapy (GHRT) on body composition and functional measures of physical fitness are largely unknown particularly in children.Study aim: To evaluate body composition, muscular strength and flexibility, and exercise tolerance in GHD children at baseline and after one-year GHRT.Patients and methods: We enrolled 19 children and adolescents with untreated ...

hrp0089p1-p253 | Thyroid P1 | ESPE2018

Long Term Comparison between Liquid and Tablet Formulations of L-Thyroxine (L-T4) in the Treatment of Congenital Hypothyroidism (CH)

Vigone Maria Cristina , Ortolano Rita , Vincenzi Gaia , Pozzi Clara , Ratti Micol , Assirelli Valentina , Vissani Sofia , Cavarzere Paolo , Mussa Alessandro , Gastaldi Roberto , Mase Raffaella Di , Street Maria Elisabeth , Trombatore Jessica , Weber Giovanna , Cassio Alessandra

Introduction: Few studies have been published comparing the liquid and tablet formulations of L-T4 in pediatric patients, with a short follow-up period. Both formulations seemed to produce a rapid normalization of thyroid fuction with a tendency of a greater TSH inhibition in children taking the L-T4 liquid drops. The aim of our study is to compare the long-term effectiveness and saftey of both liquid and tablet L-T4 therapy in CH patients up to 3 years old via a multicenter s...