Searchable abstracts of presentations at key conferences in endocrinology

ea0081rc12.7 | Rapid Communications 12: Reproductive and Developmental Endocrinology | ECE2022

Pubertal induction in girls with hypogonadism: insight into estrogen replacement therapy outcomes and optimization of progesterone introduction

Rodari Giulia , Federici Silvia , Cattoni Alessandro , Todisco Tommaso , Ubertini Graziamaria , Giacchetti Federico , Profka Eriselda , Dall'Antonia Alberta , Cangiano Biagio , Arosio Maura , Bonomi Marco , Cappa Marco , Giavoli Claudia

Background: Pubertal induction in girls with hypogonadism through estrogen replacement therapy (ERT) aims at mimicking physiological puberty. To date, the best induction regimen is still to be established.Aims: By setting up a multicentre clinical registry, we analysed longitudinal data on pubertal induction in girls with hypogonadotropic hypogonadism or premature ovarian insufficiency (congenital, acquired, isolated or associated with multiple pituitary...

ea0070aep571 | Pituitary and Neuroendocrinology | ECE2020

Deletion of chromosome 1q24-1q32 and combined pituitary hormone deficiency type 4: Insight into the challenges of genotype-phenotype correlation

Giavoli Claudia , Ubertini Graziamaria , Giacchetti Federico , Rodari Giulia , Profka Eriselda , Cianfarani Stefano , Arosio Maura , Cappa Marco

Background: Interstitial deletions of the long arm of chromosome 1 are rare and classified as proximal or intermediate, the intermediate spanning bands 1q24–1q32. This region contains several genes, including LHX4, a LIM-homeodomain transcription factor essential in the early steps of pituitary ontogenesis. Indeed, mutations in the LHX4 gene are related to combined pituitary hormone deficiency type 4 (CPHD4, OMIM 602146).Aim: outline the impact of ...

ea0022h2.2 | Oral Communications Highlights 2 | ECE2010

Human recombinant GH replacement therapy in children with pseudohypoparathyroidism type Ia and GH deficiency: first study on the effect on growth

Mantovani Giovanna , Ferrante Emanuele , Linglart Agnes , Cappa Marco , Cisternino Mariangela , Maghnie Mohamad , Beck-Peccoz Paolo , Spada Anna

Pseudohypoparathyroidism (PHP) refers to a heterogeneous group of rare metabolic disorders characterized by hypocalcemia and hyperphosphatemia due to PTH resistance. Heterozygous loss of function mutations in the gene encoding the alpha-subunit of Gs (GNAS) inherited from the mother lead to PHP type Ia. PHP type Ia (PHP-Ia) is a disease in which the physical features (short stature, obesity, round face, brachydactyly and subcutaneous ossifications) that constitute Albri...

ea0063gp187 | Adrenal and Neuroendocrine - Clinical | ECE2019

Primary adrenal insufficiency in children: results from a large nationwide cohort

Improda Nicola , Esposito Andrea , Capalbo Donatella , Cappa Marco , Ferro Giusy , Balsamo Antonio , Baronio Federico , Russo Gianni , Lascio Alessandra Di , Greggio Nella Augusta , Tosetto Ilaria , Valenzise Mariella , Wasniewska Malgorzata , Maghnie Mohamad , Radetti Giorgio , Longhi Silvia , Betterle Corrado , Salerno Mariacarolina

Background: Primary Adrenal Insufficiency (PAI) is a rare life-threatening disorder. Data on etiology and outcome of PAI in childhood are scanty, with the exception of Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD). The aim of our study is to evaluate etiology, morbidity and long-term outcome of PAI in a large cohort of children and characterize clinical presentation in subjects with PAI not due to 21OHD CAH.Material and me...

ea0014oc1.1 | Thyroid clinical | ECE2007

Prevalence of inactivating TSH receptor (TSHR) mutations in a large series of pediatric subjects with non-autoimmune mild hyper-thyrotropinemia (hyperTSH)

Cordella Daniela , Marco Alessandro De , Calebiro Davide , Filippis Tiziana de , Radetti Giorgio , Weber Giovanna , Vigone Maria Cristina , Cappa Marco , Sartorio Alessandro , Busnelli Marta , Bonomi Marco , Chini Bice , Beck-Peccoz Paolo , Persani Luca

Mild hypothyroidism is a heterogeneous and frequent disorder in the general population that is due to autoimmune disease in most of the cases. TSH resistance is considered a rare genetic disease due to germline loss-of-function TSHR mutations. However, TSHR mutations have been mainly searched in patients with large TSH elevations and their actual prevalence among patients with mild TSH elevations (as those found in mild hypothyroidism) is so far unknown. In this study, we eval...

ea0073pep4.8 | Presented ePosters 4: Reproductive and Developmental Endocrinology | ECE2021

Current clinical practice of prenatal dexamethasone treatment in at risk pregnancies for classic 21‑hydroxylase deficiency in Europe

Nowotny Hanna F. , Blankenstein Oliver , Neumann Uta , Ahmed S. Faisal , Allen Stephanie , Baronio Federico , Battelino Tadej , Bertherat Jérôme , Bonomi Marco , de la Perrière Aude Brac , Tardy Véronique , Brucker Sara , Cappa Marco , Chanson Philippe , Bouvattier Claire , Colao Annamaria , Cools Martine , Davies Justin , Fenske Wiebke K. , Ghigo Ezio , Højbjerg Gravholt Claus , Hübner Angela , Husebye Eystein Sverre , Juul Anders , Kiefer Florian W. , Léger Juliane , Meyer Gesine , Phylactou Leonidas A. , Rohayem Julia , Russo Gianni , Scaroni Carla , Touraine Philippe , Unger Nicole , Hedi L. Claahsen-van der Grinten , Vojtková Jarmila , Yeste Diego , Günther Dörr Helmut , Lajic Svetlana , Reisch Nicole

BackgroundPrenatal dexamethasone treatment (Pdex) has been used since the 1980s to prevent virilization in female offspring suspected to have congenital adrenal hyperplasia (CAH). However, due to lack of strong evidence for its best practice as well as limited data regarding longterm adverse effects, use of dex is highly controversial. This study reveals the current medical practice regarding Pdex in female fetuses at risk of CAH due to 21hydroxylase def...