hrp0092lb-26 | Late Breaking Posters | ESPE2019

Dramatic Clinical Response to Lenvatinib in One Pediatric Patient with Advanced Metastatic Papillary Thyroid Carcinoma

Dujovne Noelia , Gazek Natalia , Pitoia Fabian , Ayarzabal Victor , Felipe Laura , Lopez Marti Jessica , Herzovich Viviana

Papillary thyroid cancer (PTC) is the most common thyroid tumor in childhood and adolescence. Most of these patients are referred with locally advanced and/or distant disease at the moment of diagnosis. Whenever is possible, these patients should be offered a total thyroidectomy and radioiodine remnant ablation. However, this approach is not always possible to perform, becoming these tumors as unresectable. These critical cases could benefit from the neoadjuvant treatment with...

hrp0084fc6.3 | Gonads & DSD | ESPE2015

Establishing the Role of the Steroid Backdoor Pathway for Androgen Biosynthesis in the Human Ovary

Marti Nesa , Sauter Kay S , Mullis Primus E , Fluck Christa E

Background: Recent work revealed two pathways in androgen biosynthesis, namely the classic and an alternative, the backdoor pathway. In this alternative pathway dihydrotestosterone is produced from 17-hydroxyprogesterone without the intermediacy of testosterone using mostly enzymes that are specific to the backdoor path. In the human ovary, regulation of androgen production plays a crucial role in normal physiology and in pathologies such as the polycystic ovary syndrome (PCOS...

hrp0095fc8.6 | Diabetes and Insulin | ESPE2022

Radio-guided surgery using 68Ga-labelled Exendin in patient with congenital hyperinsulinism

Prasad Vikas , Kühnen Peter , Rothe Karin , Hauptmann Kathrin , Boss Marti , Gotthardt Martin , Brenner Winfried , Beindorff Nicola , Blankenstein Oliver

Congenital hyperinsulinism (CHI) is a life-threatening disease and manifests in the majority of cases in the first days after birth. Based on the distribution of affected cells, focal CHI forms are distinguished from diffuse CHI forms. Focal forms occur in most cases due to a paternally inherited heterozygous mutation in a subunit of an ATP sensitive potassium channel (ABCC8, KCNJ11). Within the diagnostic setting, focal forms can be visualized by 18F DOPA PET scan, as a marke...

hrp0082p2-d3-443 | Growth Hormone (2) | ESPE2014

The Effect of Two Different GH Dosages on Final Height and Bone Geometry

Lupi Fiorenzo , Bozzola Mauro , Buzi Fabio , Longhi Silvia , Mascolo Amelia , Pilotta Alba , Porto Rossella , Ruffinazzi Giulia , Zattoni Valentina , Radetti Giorgio

Background: GH has a strong positive influence on bone stimulating both bone elongation and increase in size by enhancing the accrual of trabecular and cortical bone up to the attainment of peak bone mass in young adult.Aim of the study: We compared the effect of two different GH dosages on statural growth and bone geometry in two groups of GH-deficient children at final height. Data has been collected retrospectively from 1994 to 2013.<p class="abst...

hrp0097p2-168 | Adrenals and HPA Axis | ESPE2023

Cushing’s Disease: an Example of Drug Shortage’s Impact in Pediatric Endocrinology.

Del Medico Giulia , Chiti Nicolo' , Stagi Stefano

Cushing’s disease (CD) is defined as hypercortisolism secondary to an adrenocorticotropin (ACTH) secreting pituitary adenoma. It is rare in the pediatric age and early diagnosis and treatment are important to prevent long-term complications. In the diagnostic workup, bilateral inferior petrosal sinus sampling (BIPSS) of ACTH after corticotropin-releasing hormone (CRH) stimulation is the gold standard in the differential diagnosis of ACTH-dependent hypercortisolism. We re...

hrp0084p3-658 | Bone | ESPE2015

Vitamin Levels in Pregnant Women and in Cord Blood in Newborn in Our Area – Preliminary Results

del Campo Maria Ruiz , del Prado Yolanda Ruiz , Chocarro Yoana Yerro , Gonzalez Jose Julian Revorio

Background: There is increasing interest in vitamin D nutrition during pregnancy because of widespread reports of a high prevalence of low vitamin D status in pregnant women in high-latitude areas. It has been related to adverse events in mother and child. Neonates present a greater risk of hypocalcaemia, rickets and a higher incidence of infections during the 1st year of life.Objective and hypotheses: Real situation of pregnant women and newborn in rela...

hrp0097t5 | Section | ESPE2023

Clinical relevance of findings of the NGS panel for the pediatric patient with papillary thyroid carcinoma

Dujovne Noelia , Gazek Natalia , Vaiani Elisa , Ramirez Pablo , Perez Garrido Natalia , Marino Roxana , Lopez Marti Jessica , Ayarzabal Victor , Ciaccio Marta , Belgorosky Alicia , Herzovich Viviana

Background: In children, papillary thyroid cancer (PTC) is generally sporadic and may, less frequently, be part of an undiagnosed hereditary tumor predisposition syndrome (HTPS). Somatic molecular testing is useful to understand tumor etiology and behavior, predict prognosis, and possibly guide development of novel treatment strategies. RET/PTC fusions were found to be associated with an increased risk of invasive disease. The aims of our study were to analyze...

hrp0098p2-154 | GH and IGFs | ESPE2024

Two Clinical Cases of Growth Hormone Insensitivity Overlapping Disorders: STAT3 Gain-Of-Function Syndrome and Meier-Gorlin Syndrome.

Del Medico Giulia , Consonni Filippo , Gambineri Eleonora , Stagi Stefano

Growth Hormone insensitivity (GHI) is characterized by short stature, GH resistance and IGF-1 deficiency. Classical GHI includes defects in the GH receptor and other genetic abnormalities downstream the GH cascade. Various short stature syndromes have phenotypes that overlap with GHI. This report discusses two cases of nonclassical GHI. Patient 1 is a boy with STAT3 gain-of-function syndrome (STAT3 GOF), characterized by immune dysregulation and growth failure. He developed ea...

hrp0095p1-554 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Oligogenic Inheritance May Explain The Phenotypic Variability and Incomplete Penetrance of Deleterious GL1I2 Variants in Congenital Hypopituitarism

Javier Rodríguez-Contreras Francisco , Ros-Pérez Purificación , Amalia García de Santiago Fe , Regueras-Santos Laura , Ruiz-Cano Rafael , Vallespín Elena , Del Pozo Ángela , Solís Mario , Elise Heath Karen , González-Casado Isabel , Campos-Barros Ángel

Background: GL1I2 encodes a zinc-finger transcription factor expressed in the developing hypothalamus and in Rathke's pouch, the embryonic precursor of the pituitary gland. Pathogenic GL1I2 variants have been implicated in the etiology of the broad clinical spectrum of congenital hypopituitarism (CHY): holoprosencephaly, midline facial abnormalities, Culler-Jones syndrome, combined pituitary hormone-deficiency (CPHD) and isolated GH-defi...

hrp0084p3-788 | DSD | ESPE2015

Persistent Müllerian Duct Syndrome Associated with Anorchia Caused by a Compound Heterozygous Mutation in the AMHR-II Gene

Rojo Jaime Cruz , Lorenzo Lucia Garzon , Fernandez Jone Agirregoitia , del Pozo Cristina Martinez , Picard Jean-Yves , del Pozo Jaime Sanchez

Background: The persistent Müllerian duct syndrome (PMDS) is a rare 46-XY disorder of sex development, characterized by the persistence of Müllerian derivatives (uterus, Fallopian tubes) in otherwise normally virilised males. The condition is transmitted as a recessive autosomal trait and is caused in most cases by a defect in either the anti-Müllerian hormone (AMH) or the AMH type-II receptor (AMHR-II) genes.Case report: We present a 9 ye...