hrp0098fc15.3 | Late Breaking | ESPE2024

Assessment of actionable secondary genetic findings in a large cohort of children with short stature

Carneiro Rezende Raissa , Liberatoscioli Menezes de Andrade Nathalia , de Polli Cellin Laurana , Maria Santillan Ana , da Cunha Scalco Renata , Augusto de Lima Jorge Alexander

Introduction: Genetic investigation in patients with short stature allows diagnostic definition and impacts therapeutic decisions, clinical follow-up, and genetic counseling. That said, next-generation sequencing has created a new clinical challenge by allowing the identification of findings unrelated to the complaint that prompted testing. The ACMG published a list of actionable incidental findings that includes genes whose variants should be reported to pati...

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...

hrp0098p2-357 | Late Breaking | ESPE2024

Real-world IGF-1 Variations & Its Management in Children on Recombinant Human Growth Hormone (rhGH) Therapy (RIGHT Study)

Ching Chen Suet , Alimussina Malika , Koley Sanhita , Shepherd Sheila , Eid Al-Agha Abdulmoein , Amin Nadia , Atapattu Navoda , Chen JiaJia , Deyanova Yana , Fu Antony , Højby Michael , Augusto de Lima Jorge Alexander , Iotova Violeta , Januś Dominika , Markosyan Renata , S. Miller Bradley , Savendahl Lars , Nimali Seneviratne Sumudu , Guftar Shaikh M , Shenoy Savitha , J W Tack Lloyd , Wasniewska Malgorzata , Faisal Ahmed S

Aim: Serum IGF-1 is widely advocated as a tool for monitoring adherence, safety and effectiveness of recombinant human growth hormone (rhGH). However, there is a need to understand the real-world variations in IGF-1 levels in children on rhGH and the management of abnormal IGF-1 levels in routine clinical practice.Method: Centres participating in the Global Registry for Novel Therapies in Rare Bone and Endocrine Conditio...

hrp0086rfc14.4 | Growth : Mechanisms | ESPE2016

Genetic Diagnosis of Congenital Growth Hormone Deficiency by Massive Parallel Sequencing Using a Target Gene Panel

Nakaguma Marilena , de Lima Jorge Alexander Augusto , de Assis Funari Mariana Ferreira , Lerario Antonio Marcondes , de Azevedo Correa Fernanda , de Carvalho Luciani Renata Silveira , de Mendonca Berenice Bilharinho , Arnhold Ivo Jorge Prado

Background: Congenital GH deficiency (GHD) can be isolated (IGHD) or combined with other pituitary hormone deficiencies (CPHD). The identification of mutations has clinical implications for the management of patients and genetic counseling1.Objective: To prospectively conduct a molecular-genetic analysis in genes associated with IGHD or CPHD.Method: Forty patients with IGHD (n=8) or CPHD (n=32) were stu...

hrp0098p3-179 | Growth and Syndromes | ESPE2024

Brazilian children with severe short stature and Batter syndrome type 3: a case series

Malaquias Alexsandra , Novaes Andrea , Augusto Jorge Alexander , de Andrade Nathalia , Avelino Vivian , Ayonan Marcella , Jose Sousa Randerson , Nascimento Daniel , Nishikawa Yuka , Izabel Gonçalves Maria

Brief summary: This case series of three patients with Bartter syndrome (BS) type 3 treated in Sao Paulo and Santarem, Brazil is presented to highlight the difficulties of clinical management and diagnosis. BS is an inherited disorder characterized by impaired sodium chloride reabsorption in the cortical and medullary thick ascending limbs of the loop of Henle and secondary hypokalemic alkalosis. In Brazil, genetic testing for this disease is not common. Howev...

hrp0095p1-148 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Usefulness of Next Generation Sequencing in the Molecular Diagnosis of McCune-Albright Syndrome in Peripheral Blood

Guimarães Faria Aline , Augusto Lima Jorge Alexander , Montenegro Luciana , Pinheiro Machado Canto Ana , Eduardo Seraphim Carlos , Rezende Tinano Flavia , Soares Jallad Raquel , Matsunaga Martin Regina , Candida Villares Fragoso Maria , Christina Souza Pinto Nadja , Bilharinho Mendonca Berenice , Claudia Latronico Ana , Nahime Brito Vinicius

Introduction: McCune-Albright Syndrome (MAS) is a rare congenital disorder caused by post-zygotic activating mutations in GNAS gene. Due to the mosaic pattern of this disease, mutation abundance is frequently low in several tissues, including blood cells. The emergence of next-generation sequencing (NGS) methodologies has allowed the analysis of millions of DNA fragments simultaneously and independently, enabling detection of low mutation abundance. Aim: To es...

hrp0098p2-394 | Late Breaking | ESPE2024

Identification of GNAS somatic variants in whole blood dna from patients with ovarian-origin peripheral precocious puberty using droplet digital pcr

Guimaraes Faria Aline , R Montenegro Luciana , Augusto Lima Jorge Alexander , Matsunaga Martin Regina , Candida B. V. Fragoso Maria , R Tinano Flavia , E Seraphim Carlos , Pinheiro Machado Canton Ana , Garcia Gomes Larissa , A Martos-Moreno Gabriel , Tarjuelo García Irene , Carcavilla Atilano , Tirado-Capistros Mireia , Christina Souza-Pinto Nadja , Argente Jesús , Bilharinho Mendonca Berenice , Claudia Latronico Ana , Nahime Brito Vinicius

Background: GNAS activating mutations are the genetic basis of McCune-Albright syndrome (MAS). Peripheral precocious puberty (PPP) due to functional ovarian cysts, with or without MAS features, denotes a potential GNAS -related disorder.Aim: To explore GNAS somatic mutations (p.R201C/H) in peripheral leukocyte DNA using ddPCR in girls with ovarian-origin PPP with or without MAS.<p class="ab...

hrp0098p2-178 | Growth and Syndromes | ESPE2024

Co-Occurrence of DNET and Lymphoma in a patient with Noonan syndrome and mutation in PTPN11 gene

Rosa Pellicciari Caroline , Aparecida Siviero Miachon Adriana , Maria Spinola e Castro Angela , Maria Cappellano Andrea , Saba da Silva Nasjla , Augusto Vercillo Luisi Flavio , A. L. Jorge Alexander , C. Malaquias Alexsandra

Background: Noonan Syndrome (NS; OMIM 163950) is a common autosomal dominant disorder distinguished by facial dysmorphism, short stature, heart defects, chest deformities, and learning disabilities or mental retardation. NS stems from heterozygous germline causative variants in genes regulating the RAS/MAPK signaling pathway, including PTPN11, SOS1, RAF1, RIT1, KRAS, NRAS, BRAF, LZTR1, and SOS2. The condition exhibits considerable clinical variability and shar...

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 ...

hrp0089p3-p156 | Fat, Metabolism and Obesity P3 | ESPE2018

Neck Circumference and Lipid Profile in Adolescents with Overweight/Obesity

Arrais Ricardo Fernando , Nunes Amanda Caroline Pereira , Andrade Ana Suely de , Souza Angelica Luiza de Sales , Araujo Eduarda Pontes dos Santos , Soares Erika Aparecida de Araujo , Pimentel Jessica Bastos , Teixeira Suerda Isa Nascimento , Souza Thatyane Oliveira , Jaime Viviane Cassia Barrionuevo , Rezende Adriana Augusto de , Lima Severina Carla Vieira Cunha

Introduction: Neck Circumference (NC) has been pointed out as an important indicator in the evaluation of overweight and may be useful to determine the level of obesity and metabolic alterations.Objective: To verify the relationship between the NC and the lipid profile in adolescents with overweight or obesity.Methods: A cross-sectional study with adolescents between 10 and 19 years old, of both sexes attended at the Endocrinology ...