hrp0098p3-152 | Growth and Syndromes | ESPE2024

Unusual case of Noonan or Turner Syndrome – Why not think about Escobar Syndrome?

Navarro da Cunha Beatriz , Hoelz Tellini Toledo Arthur , de Polli Celin Laurana , Rosa Pelliciari Caroline , Santili Cláudio , A. L. Jorge Alexander , C. Malaquias Alexsandra

Background: Escobar Syndrome (ES; OMIM #265000) is a rare condition falling under the spectrum of Multiple Pterygium Syndromes (MPS). MPS encompasses a group of congenital anomaly disorders characterized by features such as neck, elbows, and knee webbing alongside joint contractures (arthrogryposis). ES, specifically, represents a non-lethal variant stemming from homozygous or compound heterozygous mutations in the CHRNG gene. Noteworthy characteristics includ...

hrp0098p2-33 | Bone, Growth Plate and Mineral Metabolism | ESPE2024

Dysplasia Epiphysealis Hemimelica combined with Familial Hypocalciuric Hypercalcemia – can the calcium-sensing receptor have a role in expansive bone lesions?

Hoelz Tellini Toledo Arthur , Diesendruck Benjamin , Ayumi Peixoto Aoto Barbara , Akkari Miguel , Santili Cláudio , de Oliveira Goiano Ellen , Ferreira Rodart Itatiana , Rosa Bispo Thayna , A. Longui Carlos , C. Malaquias Alexsandra

Background: The calcium-sensing receptor (CaSR) regulates calcium metabolism by modulating PTH secretion, as well as by direct effect on osteoblasts and osteoclasts, balancing bone formation and resorption. Loss-of-function heterozygous mutations on CASR gene can lead to Familial Hypocalciuric Hypercalcemia (FHH; OMIM #145980), a benign autosomal dominant condition of undefined incidence. Dysplasia Epiphysealis Hemimelica (DEH; OMIM #127800) is a rare...

hrp0094p2-87 | Bone, growth plate and mineral metabolism | ESPE2021

A rare presentation of Dysplasia Epiphysealis Hemimelica combined with Familial Hypocalciuric Hypercalcemia – Is this association possible?

Toledo Arthur H. T. , Diesendruck Benjamin , Rodrigues Marcela , Baches Jorge Rafael , Akkari Miguel , Santili Claudio , Baratela Wagner A. R. , Goiano Ellen de Oliveira , Malaquias Alexsandra C. ,

Background: Familial Hypocalciuric Hypercalcemia (FHH) type 1 is a benign condition of hypercalcemia with autosomal dominant inheritance caused by pathogenic variants in the calcium-sensing receptor gene (CASR). CaSR plays a crucial role in the regulation of calcium balance. Inactivating mutations in CASR result in altered calcium-sensing and inappropriate parathyroid hormone (PTH) release concerning the calcium concentration. Dysplasia Epiph...

hrp0084p3-819 | Endocrine Oncology | ESPE2015

Early Endocrine Complications in Survivors of Childhood Malignant Tumours

Sanchez-Gonzalez Cristina , Andrades-Toledo Monica , Cardeno-Morales Alvaro , Torralbo-Carmona Alicia , Garcia-Garcia Emilio

Background: The progress made in the treatment of childhood cancer has resulted in better long-term survival rates. Therefore sequelae of treatment have become more important.Objective and hypotheses: To investigate the prevalence of early endocrine disorders in survivors of a childhood tumour within the 1st years after diagnosis.Method: We performed a retrospective medical record review of survivors followed at the endocrine clini...

hrp0092p2-57 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

A Novel Mutation of Phex Gene Inducing X-Linked Hypophosphatemia Rickets, A Case Report

Pinto Renata , Francisco Mendes Arthur , Barbosa Julio Montes , Steinmetz Lucas

Introduction: X-linked hypophosphatemic rickets (XHR) is the most common form of hereditary rickets, with an estimated incidence of 1: 20.000 individuals. The main characteristic of the disease is excessive renal phosphate loss, which leads to hypophosphatemia with high phosphaturia and defective bone mineralization.XHR results from mutations in the in the PHEX gene (Phosphate Regulatory Gene with Homology for Endopeptidases located on t...

hrp0086p2-p306 | Diabetes P2 | ESPE2016

Maturity-Onset Diabetes of the Young (MODY): Tracking and Clinical Follow-up

Bezerra Arthur Pires , Ramos Alberto Jose Santos , Braz Adriana Farrant

Background: Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes, with an autosomal dominant mode of inheritance and high penetrance. To this date, it is known 13 subtypes of MODY with different genetic etiologies. It is characterized by high incidence in the family, an early onset and primary defect in pancreatic β-cell function.Objective and hypotheses: The primary objective of this study is to identify patients with MODY an...

hrp0092p2-196 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Klinefelter Syndrome Associated with Short Stature Due to Iatrogenic Cushing

Machado Pinto Renata , Barbosa Julio , Mendes Arthur , Steinmetz Lucas , Cunha Damiana , Divino Da Cruz Aparecido

Introduction: Klinefelter syndrome (KS) is a form of aneuploidy resulting from 2 or more X chromosomes in a male. The most common karyotype is 47, XXY. KS affects physical and intellectual development to varying degrees, commonly causing hypo-development of secondary sexual characters and high stature.Case Report: JLV, male, 3 year 1 month age, the first child of a young non-consanguineous couple, was referred to the ped...

hrp0098p1-214 | Adrenals and HPA Axis 3 | ESPE2024

The unique urinary steroid metabolome in infants with P450 oxidoreductase deficiency in the first week of life

S. Baranowski Elizabeth , Idkowiak Jan , Waterson John , D’Harlingue Arthur , H. Olney Ann , E. Ivison Hannah , A. Hughes Beverley , W. Mueller Jonathan , Arlt Wiebke , H.L. Shackleton Cedric

Background: P450 oxidoreductase (POR) is a co-factor critical for the function of type 2 microsomal cytochrome P450 enzymes. POR deficiency (PORD) results in a rare form of congenital adrenal hyperplasia, with combined attenuation of CYP21A2 and CYP17A1 steroidogenic enzymes. It is characterised by combined deficiencies of glucocorticoids and androgens postnatally. Differences in sex development can arise in both sexes due to antenatal activation of the altern...

hrp0082fclb5 | Late Breaking Abstracts | ESPE2014

CB2 Polymorphism Could Modulate the Relationship Between Childhood Obesity and Age at Menarche

Grandone Anna , Bellini Giulia , del Giudice emanuele Miraglia , Perrone Laura , Rossi Francesca

Background: There is an emerging evidence that the ovary may be an important site where genes such as LIN28b, whose polymorphisms has been strongly associated to age at menarche, could modulate the timing of puberty. Recent data suggest that the endocannabinoid system plays a role in folliculogenesis and ovulation, through cannabinoid receptor 2 (CB2) expressed in the ovary. On the other hand childhood obesity is associated with increased likelihood of early menarche,...

hrp0082p2-d1-585 | Thyroid | ESPE2014

Subclinical Hypothyroidism is Associated with Low IGF1 Levels and Decreased Growth Velocity

Bellini Helena , Maciel Lea , Custodio Rodrigo , Milani Soraia , Paula Mariana , Antonini Sonir , Liberatore Raphael , Martinelli Carlos

Background: Subclinical hypothyroidism (SH) is defined as normal tyrosine levels in the presence of TSH concentrations between 5 and 10 mU/ml. The impact of SH on IGF system and growth of infants remains unknown.Objective and hypotheses: To evaluate IGF1, IGFBP3 levels and growth velocity (GV) of infants with SH.Method: 98 children up to 36 months of age, recalled due to a TSH >5 mU/ml in the neonatal screening test, were divid...