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...

hrp0098p1-170 | Growth and Syndromes 2 | ESPE2024

Growth hormone therapy is not efficient in improving the adult height of children with Hypochondroplasia

Rosa Pellicciari Caroline , Silva Alves da Rocha Renata , Pieri Ribeiro Maine , Liberatoscioli Menezes de Andrade Nathalia , A. L. Jorge Alexander , C. Malaquias Alexsandra

Introduction: Hypochondroplasia (HCH) is a form of mild dwarfism caused by heterozygous gain-of-function mutations in the fibroblast growth factor receptor 3 (FGFR3). FGFR3 is a negative regulator of endochondral bone growth, and individuals with HCH typically exhibit characteristics such as disproportionate short stature with shortening limb length, lumbar lordosis, and macrocephaly. Regarding recombinant human growth hormone (rhGH) therapy in children with H...

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...

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...

hrp0095rfc3.3 | Early Life and Multisystem Endocrinology | ESPE2022

Analysis of A Series of Italian Apeced Patients with Autoimmune Liver Disease and Enteropathies

Fierabracci Alessandra , Cappa Marco , Pietrobattista Andrea , Felicia Faienza Maria , Capalbo Donatella , Valenzise Mariella , Lampasona Vito , Pagliarosi Olivia , Carbone Elena , Carolina Salerno Maria , Betterle Corrado

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED, OMIM240300) is a rare monogenic disease due to biallelic mutations in the Autoimmune Regulator (AIRE) gene. This encodes for a thymus-enriched transcription factor responsible for central immune tolerance. Classic diagnostic criteria are the presence of two of main symptoms of chronic mucocutaneous candidiasis (CMC), hypoparathyroidism (HP) and Addison’s disease (AD). Non-endocrine autoimmun...

hrp0092fc8.5 | Pituitary, Neuroendocrinology and Puberty Session 1 | ESPE2019

LGR4-Wnt β-Catenin Signalling Directs GnRH Network Development, with Defects Leading to Self-Limited Delayed Puberty

Mancini Alessandra , Howard Sasha R. , Cabrera Claudia P. , Barnes Michael R. , David Alessia , Wehkalampi Karoliina , Vassart Gilbert , Cariboni Anna , Garcia Marie Isabelle , Guasti Leonardo , Dunkel Leo

Background: The initiation of puberty is dependent upon an augmentation of gonadotropin-releasing hormone (GnRH) secretion from the hypothalamus. Development of the GnRH neuroendocrine network in embryonic life depends on coordinated migration of neurons from the vomeronasal organ in the nose to the forebrain. We have previously demonstrated that dysregulation in GnRH neuronal migration leads to delayed pubertal onset. Late puberty affects up to 2% of the ...

hrp0082p2-d2-430 | Growth Hormone (1) | ESPE2014

A Reappraisal of the Cut-Off Limits of the Peak GH Response to Stimulation Tests for the Diagnosis of GH Deficiency in Children and Adolescents

Guzzetti Chiara , Ibba Anastasia , Pilia Sabrina , Beltrami Nadia , Di Iorgi Natascia , Rollo Alessandra , Radetti Giorgio , Zucchini Stefano , Maghnie Mohamed , Cappa Marco , Loche Sandro

Background: The diagnosis of GH deficiency (GHD) in children and adolescents is classically established when GH concentrations fail to reach an arbitrary cut-off level (usually 7–10 μg/l) after at least two provocative tests (PT).Objective and hypotheses: Aim of the study was to define optimal GH cut-offs to different PT in children and adolescent with short stature.Method: This was a retrospective study in 437 subjects w...

hrp0084p1-122 | Thyroid | ESPE2015

Congenital Hypothyroidism in Twin Couples and Triplets

Olivieri Antonella , Weber Giovanna , Cassio Alessandra , Costa Pietro , Calaciura Francesca , Medda Emanuela , Vigone Maria Cristina , De Filippis Tiziana , Gelmini Giulia , Marelli Federica , Di Russo Valeria , Persani Luca

Background: Over the years special screening procedures for preterm and twin babies (re-screening at 2–4 weeks of life) have been adopted by many screening laboratories worldwide. However, no extensive studies have been performed to verify how many co-twins with negative test at first screening (3–5 days) become positive at re-screening, and the utility of a long-term follow-up also in co-twin with negative test at screening and re-screening.Ob...

hrp0094p2-462 | Thyroid | ESPE2021

Growth impairment in children with severe autoimmune primary hypothyroidism and pituitary hyperplasia without goiter

Corica Domenico , Kucharska Anna Malgorzata , Vierucci Francesco , Valenzise Mariella , Li Pomi Alessandra , Tuli Gerdi , Munarin Jessica , Pyrzak Beata , Cesaretti Graziano , Aversa Tommaso , Wasniewska Malgorzata

Background: Prolonged severe hypothyroidism due to Hashimoto’s thyroiditis (HT) is a rare cause of pituitary hyperplasia (PH) in children. Loss of thyroxine negative feedback causes a TRH-dependent hyperplasia of pituitary thyrotroph cells resulting in adenohypophysis enlargement. A transdifferentiation of pituitary somatotroph cells into thyrotroph cells could explain growth failure in those patients. We report a case series of patients with growth impairment diagnosed...

hrp0094p2-70 | Bone, growth plate and mineral metabolism | ESPE2021

Phenotype characterization of a PHEX intron mutation in an Italian family affected by X linked hypoposphatemic rickets.

Aiello Francesca , Schiano di Cola Roberta , Luongo Caterina , Maltoni Giulio , Cassio Alessandra , Festa Adalgisa , Pasquali Daniela , Del Giudice Emanuele Miraglia , Grandone Anna ,

Introduction: X-linked hypophosphatemia (XLH) is a rare hereditary condition caused by mutation in the gene encoding the phosphate-regulating endopeptidase homolog, X-linked (PHEX). It is characterized by altered phosphate homeostasis with persistent hypophosphatemia and hyperphosphaturia resulting in deficient skeletal mineralization, rickets, bone deformity, growth failure, dental problems, joint pain and impairment.Case Prese...