hrp0095p2-180 | Growth and Syndromes | ESPE2022

Beckwith-Wiedemann Syndrome: three case reports

Moscoso Joana , Cirurgião Filipa , Dias Joana , Laura Fitas Ana , Diamantino Catarina , Pina Rosa , Lopes Lurdes

Beckwith-Wiedemann Syndrome (BWS) is an overgrowth disorder, occurring in 1/13,700 births. BWS is usually sporadic, but 15% of cases are familial. Variable phenotype may include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycemia, lateralized overgrowth and predisposition to embryonal tumors. We describe three male cases of BWS followed at our clinic.Case 1: Born of a gestation complicated by gestational diabetes. Del...

hrp0089p1-p111 | Fat, Metabolism and Obesity P1 | ESPE2018

Selected Serum Adipokines in Children with Irritable Bowel Syndrome

Oświęcimska Joanna , Szymlak Agnieszka , Chobot Agata , Mazur Bogdan , Ziora Katarzyna

Background: Irritable bowel syndrome (IBS) is a functional gastrointestinal disorder. The pathogenesis of this disease has not been clarified so far. It is hypothesized that visceral hypersensitivity observed in IBS is associated with the activation of immune system and development of low-grade inflammation in the intestinal mucosa. Previous studies have shown that hormonal function of adipose tissue in inflammatory bowel disease is disturbed. However, there is only a few repo...

hrp0086p2-p82 | Adrenal P2 | ESPE2016

A Novel Mutation of HSD3beta2 Presenting as Hypospadias with Salt-wasting in a Male Infant

Buchanan C.R. , Kalitsi J. , Ghataore L. , Taylor N.F. , Clifford-Mobley O. , Rumsby G. , Kapoor R.R.

Background: HSD3B2 is a rare cause of autosomal recessive primary adrenal insufficiency, potentially associated with under virilisation of XY males and virilisation of XX females. We present a case of a male infant presenting at term with ambiguous genitalia (DSD) with underlying diagnosis confirmed biochemically and genetically with a novel mutation of HSD3beta2.Objective: Case report.Patients and methods: Baby was born as FTND wi...

hrp0086p1-p253 | Diabetes P1 | ESPE2016

Sulphonylurea Treatment in a Patient with Intermediate DEND Syndrome

Catli Gonul , Kocyigit Cemil , Gencpinar Pinar , Can Penbe S. , Dundar Nihal O. , Dundar Bumin N.

Background: DEND syndrome is characterized by developmental delay, epilepsy, and neonatal diabetes mellitus (NDM) due to mutations in KCNJ11 and ABCC8 genes. Intermediate DEND (iDEND) syndrome is a rare mild form with mild motor, speech or cognitive delay and an absence of epilepsy. Improvement in glycemic control and neurologic symptoms has been reported in three cases with iDEND syndrome.Objective and hypotheses: To present the result...

hrp0084p1-20 | Bone | ESPE2015

24-Hydroxylase Polymorphism as a Possible Contributor to the Increased 1,25(OH)2D in African Americans

Carpenter Thomas O , Cole David E C , Ardeshirpour Laleh , Salehpour Shadab

Background: States of vitamin D insufficiency are important determinants of rickets, as well as osteoporosis and other common complex disorders like diabetes, cancer, and infectious diseases. Although, serum concentrations of the vitamin D metabolites are primarily driven by vitamin D supply (by diet or cutaneous synthesis), there is emerging evidence to suggest that single nucleotide variants (SNVs) are important genetic determinants.Objective and hypot...

hrp0097p2-75 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2023

Foetal exposures to endocrine-disrupting chemicals. INMA-ASTURIAS COHORT. SPAIN.

Cristina Rodríguez-Dehli Ana , Fernández-Somoano Ana , Riaño Galán Isolina , Tardon Adonina

Background: Endocrine-disrupting chemicals (EDCs) are serious and urgent threats to public health, due to the potentially serious adverse effects of EDCs on endocrine processes during susceptible periods of human development.Objective: To evaluate the levels endocrine disruptors at gestation.Material and methods: A pilot study. Data were obtained from 30 pregnant mothers recruited ...

hrp0097p2-28 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Hipothalamic syndrome in craniopharyngioma: pre and post-surgery

Coelho Isabel , Francisco Branco Caetano , Iraneta Amets , Conceição Carla , Lopes Lurdes , Galhardo Júlia

Introduction: Craniopharyngioma (CP) is a histologically benign rare tumor from the sellar and parasellar region. Its invasion into adjacent structures, namely optic nerve and hypothalamic-pituitary axis brings significant morbidity and warrants surgical treatment. Hypothalamic Syndrome (HS) can occur in different conditions affecting this structure, comprising a cluster of symptoms like pituitary dysfunction, obesity, temperature dysregulation, sleep disturba...

hrp0097p2-290 | Late Breaking | ESPE2023

Ovarian steroid cell tumor in a very young girl: clinical and genetic aspects

Kuperman Hilton , Macedo Mauricio , Hailley Nathalia , Shiang Christina , Norberto Stávale João , Odone Filho Vicente

Introduction: Precocious pubarche (PP) is characterized by the early development of pubic hair and clitoral enlargement in girls. While commonly attributed to adrenal-related causes, such as congenital adrenal hyperplasia or adrenal tumors, ovarian sources are infrequent etiologies. In this report, we present a clinical case of a young girl with PP due to a rare source.Case Report: A 1.7-year-old girl presented with the ...

hrp0095p1-285 | Fat, Metabolism and Obesity | ESPE2022

Nutritional disparities among Brazilian children: study of the temporal trend of the BMI from 2010 to 2021.

Machado Pinto Renata , Carvalho Lima Vitor , Marinho de Jesus Luciana , Barreira Duarte de Sousa Mariana , Paulo do Carmo Assunção Marcos , Lima Mutão Stival Nicolle , Oliveira Vaz Tiago

Introduction: The Body Mass Index (BMI) is an essential indicator for the nutritional assessment of children and reflects the exposure to health conditions that are harmful to the development of this population.Objective: To analyze the temporal trend of the BMI of Brazilian children, 0 to < 10 years old from 2010 to 2021.Methods: Descriptive ecological study. Data obtained from...

hrp0095p1-224 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

High Vitamin Deficiency Throughout Childhood. Inma-Asturias Cohort. Spain

Rodríguez-Dehli Cristina , Fernández-Somoano Ana , Riaño-Galán Isolina , Venta Rafael , Tardon Adonina

Background: Vitamin D (25OHD) insufficiency is becoming a public health issue. Adequate 25OHD status during pregnancy may influence the health status of the offspring.Objective: To evaluate the levels of 25OHD from gestation to 12 years, assessing seasonality and intake.Material and methods: Data were obtained from 485 pregnant mothers recruited in Asturias between 2004-2007 and th...