hrp0089p2-p345 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Histopathologic Characterization of Patients with 46,XX Testicular and Ovotesticular Disorders of Sex Development

Touzon Maria Sol , Mutti Maria Laura Galluzzo , Ramirez Pablo , Garrido Natalia Perez , Marino Roxana , Bailez Marcela , Costanzo Mariana , Guercio Gabriela , Vaiani Elisa , Ciaccio Marta , Rivarola Marco Aurelio , Belgorosky Alicia , Berensztein Esperanza

Disorders of sex development (DSD) are those congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. The aim of this study was to characterize the histology of 46,XX DSD prepubertal gonads. We studied 25 gonads of fourteen 46,XX DSD patients. The age of biopsy/gonadectomy was 1.17 (0.08–4.17) years (median and range). Molecular studies confirmed the absence of SRY by PCR and/or MLPA in blood samples of all patients and i...

hrp0082fc11.3 | Pituitary | ESPE2014

Early-Onset Central Diabetes Insipidus is Associated with De Novo Arginine Vasopressin-Neurophysin II or Wolfram Syndrome 1 Gene Mutations*

Allegri Anna Elsa Maria , Iorgi Natascia Di , Perrotta Silverio , Ragione Fulvio Della , Scianguetta Saverio , Borriello Adriana , Ferraro Marcella , Santoro Claudia , Calcagno Annalisa , Napoli Flavia , Giaccardi Marta , Cappa Marco , Salerno Maria Carolina , Maghnie Mohamad

Background: Children with familial forms of central diabetes insipidus (CDI) display polyuria and polydipsia within the first years of life.Objective and hypotheses: We hypothesize that children with an early-onset idiopathic CDI might be affected by de novo genetic mutations.Method: Eleven children aged between 1 month and 7 years with polyuria and polydipsia and negative family history were enrolled. In nine of them with...

hrp0082p1-d3-185 | Pituitary | ESPE2014

Early-Onset Central Diabetes Insipidus is Associated with de novo Arginine Vasopressin-Neurophysin II or Wolfram Syndrome 1 Gene Mutations

Allegri Anna Elsa Maria , Iorgi Natascia Di , Perrotta Silverio , Ragione Fulvio Della , Scianguetta Saverio , Borriello Adriana , Ferraro Marcella , Santoro Claudia , Calcagno Annalisa , Napoli Flavia , Giaccardi Marta , Cappa Marco , Salerno Maria Carolina , Maghnie Mohamad

Background: Children with familial forms of central diabetes insipidus (CDI) display polyuria and polydipsia within the first years of life.Objective and hypotheses: We hypothesize that children with an early-onset idiopathic CDI might be affected by de novo genetic mutations.Method: Eleven children aged between 1 month and 7 years with polyuria and polydipsia and negative family history were enrolled. In nine of them with...

hrp0082p2-d3-494 | Endocrine Oncology | ESPE2014

Three Year Experience of a National Interdisciplinary Initiative to Improve Outcomes for Children with Hypothalamic Pituitary Axis Tumours (HPATs) Using Multi-site Videoconferencing for Decision Making on Behalf of the UK HPAT Interest Group

Perelberg Daniel , Morillon Paul , Ederies Ash , Aquilina Kristan , Dorward Neil , Michalski Anton , Hargrave Darren , Chang Yen-Ching , Bozorgi Nillofar , James Samantha , Korbonits Marta , Drake William , Akker Scott , Mallucci Connor , Pizer Barry , Blair Jo , Kamaly Ian , Clayton Peter , Spoudeas Helen

Background: Childhood tumours of the hypothalamic pituitary axis (HPATs) are very rare and hence any single centre experience is limited. Without evidence-based guidance, treatment is individualised on a case basis. Survival rates are high, but at the expense of significant morbidity. Centralised care or wider multi-professional consultation may improve neuroendocrine and visual outcomes.Objective and hypotheses: i) To facilitate multi-professional dialo...

hrp0094p1-197 | Thyroid B | ESPE2021

Management of newborns born to mothers with autoimmune hypothyroidism

Cavarzere Paolo , Palma Laura , Camilot Marta , Vincenzi Monica , Teofoli Francesca , Principe Lara Nicolussi , Gaudino Rossella , Murri Virginia , Pepaj Orsiol , Lubrano Luigi , Rossi Giuliana , Sallemi Alessia , Fattori Ermanna , Lauriola Silvana , Antoniazzi Franco ,

Background: Maternal autoimmune hypothyroidism can have negative consequences on the fetus: on the one hand, maternal hypothyrosinemia might affect the fetal brain development in the early stages of pregnancy; on the other, thyroid inhibiting antibodies can pass through the placenta. It is currently unclear if these antibodies may affect the newborn’s thyroid function. Consequently, there are no certain indications regarding the management of newborns bor...

hrp0097fc8.3 | Fat, metabolism and obesity 2 | ESPE2023

Impact of growth hormone therapy on body mass index in childhood-onset craniopharyngioma: a multicenter Italian study in 117 patients.

Ciacchini Benedetta , Zucchini Stefano , Pozzobon Gabriella , Pedicelli Stefania , Parpagnoli Maria , Driul Daniela , Matarazzo Patrizia , Baronio Federico , Panciroli Marta , Partenope Cristina , Nardini Beatrice , Ubertini Graziamaria , Menardi Rachele , Guzzetti Chiara , Iughetti Lorenzo , Aversa Tommaso , Di Mase Raffaella , Cassio Alessandra , Di Iorgi Natascia

Background: patients with childhood-onset craniopharyngioma (CO-CP) present long-term outcomes, including growth hormone (GH) deficiency and obesity. Currently, data on the effects of GH therapy (GHT) on the body mass index (BMI) in CP are inconclusive. Aims of the study were to evaluate BMI over time and its determinants in a large cohort of CO-CP patients treated with GH therapy (GHT).Methods: a multicenter retrospecti...

hrp0097rfc3.4 | Fat, metabolism and obesity 1 | ESPE2023

Effect of maternal diet and breastfeeding on growth and distribution of adiposity from birth up to 12 months: data from the European LIFE-MILCH project

Righi Beatrice , Alberghi Francesca , Fontana Marta , Pelosi Annalisa , Davolio Emanuela , Rotteglia Cecilia , Catellani Cecilia , Sartori Chiara , Shulhai Anna-Mariia , Buia Veronica , Maria Papini Anna , Fanos Vassilios , Palanza Paola , E Street Maria

The ongoing European LIFE-MILCH project(www.lifemilch.eu), focuses on detecting Endocrine Disrupting Chemicals in mothers, in breast and formula milk and in urine of mothers and infants up to 12 months of age studying relationships with neurodevelopment, growth, distribution of adiposity, pubertal stages to establish a risk assessment model to prepare safety guidelines. In this study we have evaluated the effects of maternal diet during and after pregnancy, and of duration of ...

hrp0097p1-253 | Fat, Metabolism and Obesity | ESPE2023

Effect of growth hormone on thermogenic and endocrine activity of brown adipose tissue and on the lipidome of children born small for gestational age

Murillo-Vallés Marta , González-López Lorena , Valls-Llussà Aina , González-Riaño Carolina , Cereijo-Tellez Rubén , Jimenez-Pavón David , Barbas Coral , Villarroya Francesc , Sánchez-Infantes David

Introduction: Brown adipose tissue (BAT) secretes molecules capable of modulating systemic metabolism. Growth hormone (GH) has hyperglycemic action, produces lipolysis and increases muscle mass. However, there are no human studies on its effect on the BAT and lipidome.Aim: To evaluate the effect of GH on BAT and lipidome in small for gestational age (SGA) patients and its relationship with adherence to treatment.<p c...

hrp0097p1-495 | GH and IGFs | ESPE2023

Difficulties in interpreting insulin-like growth factor 1 (IGF-1) levels in short stature children born small for gestational age (SGA) treated with recombinant human growth hormone (rhGH) based on data from six clinical centres in Poland.

Glińska Marta , Walczak Mieczysław , Wikiera Beata , Pyrżak Beata , Majcher Anna , Paluchowska Monika , Gawlik Aneta , Antosz Aleksandra , Kusz Marcin , Bossowski Artur , Stożek Karolina , Wędrychowicz Anna , Starzyk Jerzy , Petriczko Elżbieta

Introduction: The assessment of IGF-1 concentrations is one of the parameters used for evaluating response to rhGH treatment. An increase in IGF-1 concentration positively correlates with growth improvement. The IGF-1 concentrations significantly above the reference range may increase total the risk of possible side effects. High IGF-1 concentration is one of the reasons for rhGH dose reduction which affects the response to treatment.<st...

hrp0097p1-371 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Effect of maternal diet on pubertal stages and ano-genital distance from birth up to 12 months: data from the European LIFE-MILCH project

Alberghi Francesca , Fontana Marta , Righi Beatrice , Shulhai Anna-Mariia , Davolio Emanuela , Rotteglia Cecilia , Pelosi Annalisa , Catellani Cecilia , Sartori Chiara , Buia Veronica , Maria Papini Anna , Fanos Vassilios , Palanza Paola , E. Street Maria

The ongoing European LIFE-MILCH project (www.lifemilch.eu), focuses on detecting Endocrine Disrupting Chemicals in mothers, in breast and formula milk and in urine of mothers and infants up to 12 months of age studying relationships with neurodevelopment, growth, distribution of adiposity, pubertal stages, and ano-genital distance (AGD) to establish a risk assessment model to prepare safety guidelines. In this study we evaluated the effects of maternal diet during and after pr...