hrp0098p2-384 | Late Breaking | ESPE2024

Incidence study of central precocious puberty in the population of goiás-brazil: the covid-19 pandemic has changed epidemiology.

Machado Pinto Renata , Luz Castelo Branco De Souza Gabriela , Moraes Magalhães Gustavo , Gelinski Isabely , Felipe Macedo Silva Luiz , Pereira Pinto Roney

Introduction: An increase in the number of cases of central precocious puberty (CPP) was observed in outpatient clinics in various centers around the world during the COVID-19 pandemic. It is believed that the adoption of specific social behaviors, and the virus infection itself may have influenced the increase in cases of CPP.Objective: To analyze the epidemiology and clinical characteristics of cases of CPP in the stat...

hrp0098p3-213 | Pituitary, Neuroendocrinology and Puberty | ESPE2024

Koolen de Vries: a new associated malformation and an additional complex disease?

Félix Cabral Mafalda , Brazão Câmara Beatriz , Branco Caetano Francisco , Lopes Lurdes

Introduction: Complex diseases are defined by the interference of different genetic and environmental factors and the contribution of each factor is often hard to unravel. In this report, we present a case where different complex diseases intertwine.Case report: We report the case of a 12 month old girl who was addressed to the endocrinology department due to hypotonia and short stature. The pregnancy had been uneventful...

hrp0098p2-155 | GH and IGFs | ESPE2024

Short and long-term response to rhGH therapy in short children born at very low birth weight.

Christianne Malaquias Alexsandra , Kataoka Homma Thais , Castelo Branco Dantas Naiara , Lucheze Freire Bruna , Vasco de Albuquerque Albuquerque Edoarda , Jorge Prado Arnhold Ivo , Cunha Scalco Renata , Augusto de Lima Jorge Alexander

Introduction: Extrauterine growth retardation is a common characteristic among children born at very low birth weight (VLBW). Over time, recombinant human growth hormone (rhGH) has been used in this group based on indications for children born small for gestational age (SGA). However, this group represents an extreme phenotype to the majority of children born SGA, and data on the outcomes of this therapy in this group are limited.<strong...

hrp0098p1-61 | Growth and Syndromes 1 | ESPE2024

Comparison of the diagnostic yield of whole exome sequencing (WES) and targeted panel sequencing for children with idiopathic short stature (ISS)

Cellin Laurana , Andrade Nathalia , Malaquias Alexsandra , Rezende Raissa , Atique Patricia , Luz Camila , Vasques Gabriela , Souza Vinicius , Quedas Elisangela , Antonini Sonir , Collet-Solberg Paulo , Scalco Renata , Longui Carlos , Jorge Alexander

Introduction: Growth disorders are often caused by monogenic conditions, and genetic investigation should be guided by clinical findings. However, in children with ISS, the absence of specific clinical features prevents the candidate gene approach. ACMG practice guideline (2021) recommends that children with ISS could be evaluated using targeted panel sequencing or WES. In commercial laboratories, WES is often performed and the genetic evaluation is offered as...

hrp0092rfc15.5 | Late Breaking Abstracts | ESPE2019

De novo Missense Mutation in SP7 in a Patient with Cranial Hyperostosis, Long Bone Fragility, and Increased Osteoblast Number

Raimann Adalbert , Lui Julian C , Roschger Paul , Wintergerst Uwe , Klaushofer Klaus , Stelzl Robert , Biedermann Rainer , Laccone Franco , Fratzl-Zelman Nadja , Hojo Hironori , Dong Lijin , Jee Youn Hee , Baron Jeffrey , Haeusler Gabriele

Background: Sp7, also known as Osterix (Osx), is a zinc-finger transcription factor, essential for osteoblast differentiation and bone formation. While bone formation is absent in Osx knockout mice, human loss of function mutations lead to impaired bone formation and cause recessive osteogenesis imperfecta, type XII (OMIM 613849 ).Case: The 5-year-old son of non-consanguineous parents presented with multiple long bone fr...

hrp0086p1-p909 | Thyroid P1 | ESPE2016

Identification of a “Cryptic” De Novo Deletion in NKX2.1 in the Brain-Lung-Thyroid Syndrome using Genomic SNP Arrays

Villafuerte Beatriz , de Benito Daniel Natera , Lacamara Nerea , Garcia Marta , Lumbreras Cesar , de Randamie Rajdee , Nevado Julian , Moreno Jose Carlos

Background: Genetic defects in NKX2.1 (chromosome 14q13) are associated with hypothyroidism, choreo-athetotic movements and respiratory distress, known as the “Brain-Lung-Thyroid syndrome”.Objective and hypotheses: To identify the genetic basis of a disorder compatible with the “NKX2.1 syndrome” and extra features outside the typical triad.Patients and methods: 10-year old girl with congenital ...

hrp0092p1-291 | Thyroid (1) | ESPE2019

An Incidental Finding of Thyroid Hormone Resistance Due to a De Novo Mutation in the THRB Gene

Averbuch Noa Shefer , França Monica , Lazar Liora , Tenenbaum Ariel , Phillip Moshe , de Vries Liat

Background: Thyroid hormone resistance (THR) is a rare genetic disorder that may be caused by thyroid hormone (TH) cell transporter defects or metabolism defects, but most cases are caused by an inherited mutation in the TH receptor beta (THRB) gene. The reduced responsiveness of target tissues to TH is characterized by elevated TH and a normal or elevated thyroid-stimulating hormone (TSH) level. Differentiating between THR and TSH-producing pituitary...

hrp0092p1-229 | Growth and Syndromes (to include Turner Syndrome) (1) | ESPE2019

"Endocrine Evaluation of 29 Cornelia de Lange Syndrome Patients (CdLS) Patients"

Matamala Angela Marina Ascaso , de Ávila Montoya José Mario Romero , Cereza Maria Teresa Llorente , Lidón Laura Trujillano , Fuentes Feliciano Ramos , Juste Juan Pie , Lozano Gloria Bueno

Background: Cornelia de Lange (CdLS) syndrome (OMIM #122470) is a complex disease, characterized by distinctive facial features, failure to thrive, microcephaly, intrauterine growth retardation and anomalies in multiple organ systems. The complexity and severity of the endocrine commitment is variable. NIPBL, SMC1A, SMC3, RAD21 and HDAC8 genes, all involved in the cohesin pathway, have been identified to cause CdLS. There are few published studies on the endoc...

hrp0098p2-117 | Fat, Metabolism and Obesity | ESPE2024

A paediatric case of Progeroid Lipodystrophy: diagnosis, follow-up and new insights from a de novo mutation in the POLD1 gene.

Cerutti Matteo , Pontone Matteo , Soldovieri Sara , Rossi Alessio , Chiti Nicolò , Corbelli Laura , Trinati Eugenio , Barbato Alessandro , Ricci Franco , Stagi Stefano

Introduction: Mandibular hypoplasia, Deafness, Progeroid features, Lipodystrophy (MDPL) syndrome is a rare autosomal dominant disorder caused by mutation in POLD1 gene, which encodes the catalytic subunit of the DNA polymerase delta (Polδ) enzyme.Case: a 6.5-year-old boy presented to the outpatient clinic due to severe thinness (BMI -4.86 SDS, WHO 2006 growth charts). Examination of his medical history rev...

hrp0094p2-329 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Cornelia de Lange syndrome: a case report

KARROU Marouan , Derbel Salma , Assarrar Imane , Messaoudi Najoua , Benouda Siham , Rouf Siham , Latrech Hanane ,

Introduction: CORNELIA DE LANGE Syndrome (CdLS) is a rare syndrome, first described in 1933 by the Dutch pediatrician CORNELIA DE LANGE. This syndrome represents a multi-systemic disorder with physical, cognitive and behavioral characteristics. It is evident in the typical or classical form (craniofacial appearance, short stature and limbs deformities). However, not all individuals with CdLS present with the classic phenotype, as the clinical presentation can ...