hrp0098p2-60 | Diabetes and Insulin | ESPE2024

The incidence of type 1 diabetes among estonian children in 2007-2022 in comparison with the data from 1983 to 2006 and the impact of the covid-19 pandemic.

Mattson Sonja , Peet Aleksandr , Lukka Mari , Heilman Kaire , Einberg Ülle , Liivak Natalja , Shor Riina , Kool Pille , Tillmann Vallo

Background: The annual incidence rate (IR) of childhood-onset type 1 diabetes mellitus (T1D) among Estonian children under the age of 15 between 1983 and 2006 was 12.6 per 100 000 per year, with the highest incidence rate in the age-group 10-14.9 years. During this time period the most rapid increase in incidence was seen in age-group 0-4.9 years, with a 9.3% increase annually.Objective: To calculate the incidence of T1D...

hrp0095p1-111 | Growth and Syndromes | ESPE2022

Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short stature

Andrade Nathalia , Funari Mariana , Malaquias Alexsandra , Collett- Solberg Paulo , Gomes Nathalia , Scalco Renata , Dantas Naiara , Rezende Raissa , Tiburcio Angelica , Souza Micheline , Freire Bruna , Krepischi Ana , Longui Carlos , Lerario Antonio , Arnhold Ivo , Jorge Alexander , Vasques Gabriela

Objective: Most children with short stature remain without an etiologic diagnosis after extensive clinical and laboratory evaluation and are classified as idiopathic short stature (ISS). This study aimed to determine the diagnostic yield of a multigene gene analysis in children classified as ISS.Design and Methods: We selected 102 children with ISS and performed the genetic analysis as part of the initial investigation. ...

hrp0094fc3.4 | Growth Disorders | ESPE2021

Prospective genetic analysis by a targeted gene panel of a cohort of patients classified as idiopathic short stature (ISS)

Andrade Nathalia , Funari Mariana , Lerario Antonio , Malaquias Alexsandra , Solberg Paulo , Lisboa Nathalia , Rayol Micheline , Dantas Naiara , Rezende Raissa , Lucheze Bruna , Quedas Elisangela , Krepischi Ana , Arnhold Ivo , Vasques Gabriela , Jorge Alexander ,

Introduction: The majority of children with short stature are classified as ISS by the absence of findings that could elucidate the cause of their growth impairment. Several monogenic defects have already been identified in children with ISS, but the candidate gene approach is not feasible when there are no specific findings to guide a specific genetic test.Objective: To evaluate the diagnostic yield of a targeted gene p...

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...

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...

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...

hrp0098p2-178 | 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...

hrp0095p1-406 | Adrenals and HPA Axis | ESPE2022

Salt-wasting in newborns due to adrenal dysfunctions other than 21 OH Congenital adrenal hyperplasia (CAH) : a single center experience

Baronio Federico , Ferrari Vittorio , Maltoni Giulio , Alqaisi Randa , Cassio Alessandra

Introduction: Salt wasting is a potentially life-threatening condition in the newborn period. Other than 21 OH-CAH other rarer adrenal causes should be considered in the differential diagnosisObjective: To report the laboratory, clinical features, management and genotype of a series of consecutive patients who showed up at our Center for a salt wasting syndrome in the last 32 years, excluding patients with 21 OH CAH....

hrp0095p1-424 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Therapeutic Approach to Primary Hyperparathyroidism: A Case-Report from One Pediatric Endocrinology Center

Di Natale Valeria , Assirelli Valentina , Zucchini Stefano , Cassio Alessandra

Primary hyperparathyroidism is a condition characterized by one or more hyperfunctioning parathyroids leading to hypercalcemia and inappropriately normal or elevated levels of parathyroid hormone (PTH). Clinically it can occur asymptomatically or manifests with osteopenia, increased risk of pathological fractures, nephrolithiasis, gastrointestinal symptoms (vomiting, constipation, abdominal pain) or asthenia. We report the case of A.L.M, a 15-year-old female who went to the Em...

hrp0095p1-341 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Proposal of a diagnostic flow-chart for the diagnosis of central precocious puberty (CPP) in females

Baronio Federico , Ortolano Rita , Candela Egidio , Bernardini Luca , Cassio Alessandra

Introduction: in females with precocious thelarche (PT) (< 8 years), elevation of morning luteinizing hormone levels (mLH) may be indicative of pubertal activation of the pituitary gonadal axis. However, this approach could not be satisfactory in real life management of PT due to the risk of reduced specificity and sensitivity of the mLH thresholds. We propose a diagnostic flow-chart based on basal and stimulated gonadotrophins integrated with bone age and ...