hrp0094p1-74 | Fetal Endocrinology and Multisystem Disorders A | ESPE2021

Pancreatic glucagon-like-peptide-1 receptor expression in congenital hyperinsulinism

Gubaeva Diliara , Proshchina Alexandra , Krivova Yuliya , Melikyan Maria ,

Background: Congenital hyperinsulinism (CHI) is the most common cause of neonatal persistent hypoglycaemia. Current treatment lacks efficiency, and so are methods for differential diagnosis of diffuse and focal histological forms. Novel diagnostic and treatment approaches with the use of another hormone – glucagon-like-peptide-1 (GLP-1) – have been developed. GLP-1 is one of the key factors for maintaining euglycaemia. It stimulates insulin secretion...

hrp0094p2-464 | Thyroid | ESPE2021

Atypical presentation of acute suppurative thyroiditis in a 6 year old child.

Liapi Maria , Möllers Martin , Feldkamp Joachim , Jorch Norbert

Bacterial infection of the thyroid gland (acute suppurative thyroiditis, AST) is a very rare condition, particularly in children, as the thyroid gland is extremely resistant to infection. AST presents with painful tender mass in the anterior neck and is usually associated with fever, sore throat, dysphagia and limitation of the neck movements. In the most cases the left globe is affected. Common laboratory findings are leukocytosis, elevated erythrocyte sedimentation rate (ESR...

hrp0094p2-470 | Thyroid | ESPE2021

Victim pathologies of the pandemic. Severe acquired hypothyroidism

Diez-Lopez Ignacio , Mesonerp Sara , Madera Maria , Sarasua-Miranda Ainhoa

Introduction: In the last year, the pediatric services have seen a reduction of up to 50% of the consultations and 1/3 of the admissions to the hospitalization ward; However, the existence of other pathologies cannot be forgotten despite the current situation, such as hypothyroidism, diabetic ketoacidosis, short stature, precocious puberty, etc., as far as endocrinology is concerned. Difficulty in accessing primary care, non-contact visits, along with the fear of families to g...

hrp0097p1-482 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2023

Human milk short-chain fatty acids promote early myelination in a 2D human co-culture of oligodendrocytes and cortical neurons.

Elke Chie Stefanie , Szentpetery Zsofia , Natalucci Giancarlo , Consolata Miletta Maria

Background: Human milk is considered the most advantageous source of nourishment for infants. Although there is a growing body of evidence showing that human milk feeding fosters early neurodevelopment, the underlying process is still not completely known. Indeed, clinical and animal research has linked human milk to enhanced myelination in the infant's central nervous system, however, access to human oligodendrocytes and neurons in the early stages of develop...

hrp0097p1-521 | Growth and Syndromes | ESPE2023

A variant of uncertain significance in HMGA2 gene, in a 2-year-old child with Silver Russel syndrome like phenotype - a case report

Bourousis Evangelos , Xatzipsalti Maria , Lazaros Leandros , Nitsos Nikolaos , Stamogiannou Lela

Introduction: Silver-Russell syndrome 5 (SRS5) is characterized by asymmetric intrauterine growth restriction (IUGR), poor postnatal growth, macrocephaly at birth and feeding difficulties. Other possible features include triangular shaped face, prominent forehead, hypertelorism, epicanthus, micrognathia, brachydactyly, clinodactyly of the 5th hand finger, and syndactyly of the 2nd and 3rd toe fingers. Pathogenic variants of the HMGA2 gene, on chromoso...

hrp0097p2-218 | Adrenals and HPA Axis | ESPE2023

Early manifestation of primary adrenal insufficiency in patients with X-linked adrenoleukodystrophy: clinical cases description

Enikeeva Sofia , Sozaeva Leila , Chugunov Igor , Kareva Maria

Keywords: Primary adrenal insufficiency, X-linked adrenoleukodystrophy, early manifestationBackground: The primary adrenal insufficiency (PAI) in patients with X-linked adrenoleukodystrophy (X-ALD) is known to develop commonly after three years of life and there are little cases with an early manifestation described. Here we report cases of early PAI manifestation in X-ALD patients.Clinical...

hrp0097p2-149 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Growth arrest due to multiple hormonal deficiencies caused by hemorrhagic apoplex of a Rathke cleft cyst - a rare difefrential diagnosis of acquired childhood pituitary insufficiency

Hofmann Michaela , Theresa Schmook Maria , Azizi Amedeo , Hartmann Gabriele

Among the acquired causes of growth hormone deficiency (GHD) in childhood, the most common reasons are benign or semimalign pituitary tumors - first and foremost craniopharyngiomas or dysgerminomas. We report on a very rare differential diagnosis in a 11-year-old, prepubertal boy with a growth arrest (1.1 cm in 2 years, height - 2.38 SDS). 2 growth hormone stimulation tests confirmed GHD (2,7 and 2,3 ng/ml after priming). There was mild central hypothyroidism (fT4 1.04 ng/dl, ...

hrp0097p2-225 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Oligomenorrhea in two girls with familial mediterranean fever: how chronic inflammation can impair ovarian cycle

Cristina Maggio Maria , Romano Domenico , Callari Simonetta , Corsello Giovanni

Introduction: Familial Mediterranean Fever (FMF) is an inherited auto-inflammatory disorder still extremely underdiagnosed in the Mediterranean area. The disease is secondary to a gain of function mutation of the MEFV gene, classically defined as “autosomal recessive”, with possible symptoms also in heterozygous patients. The mutation induces a hyperexpression of IL-1 beta and a chronic inflammation. Clinical manifestations are characterized by rec...

hrp0098fc4.6 | Adrenals and HPA Axis 1 | ESPE2024

Comparative Efficacy of Modified-Release versus Conventional Hydrocortisone Treatment in Adolescents and Young Adults with Congenital Adrenal Hyperplasia: A Retrospective Observational Study

Smirnaki Pinelopi , Karantza Maria , Mavraki Lydia , Xekouki Paraskevi

Introduction and Purpose: Congenital Adrenal Hyperplasia (CAH) encompasses a group of genetic disorders arising from enzyme deficiencies crucial for the biosynthesis of cortisol and mineralocorticoids, resulting in decreased cortisol and increased androgen production. Standard treatment involves oral hydrocortisone administration 2-3 times daily. However, this treatment often fails to mimic the circadian rhythm and effectively suppress androgen production, esp...

hrp0098p1-200 | Thyroid 2 | ESPE2024

Severe congenital hypothyroidism due to a novel homozygous variant affecting the conserved CAGYC region of TSHβ

Barskaya Maria , Makretskaya Nina , Demina Elena , Petryaykina Elena , Tiulpakov Anatoly

Background: Central congenital hypothyroidism (CCH) is a rare disorder. It may be a component of multiple pituitary hormone deficiency or (more rarely) represent an isolated entity, for which several monogenic causes are described.Aims: We report here a case of severe hypothyroidism caused by a novel homozygous variant in the TSHB gene.Results: The proband, a male from a c...