hrp0086p1-p814 | Syndromes: Mechanisms and Management P1 | ESPE2016

Changes to Thyroid Function (TF) Following Treatment with Growth Hormone (GH) Therapy in Children with Prader-Willi Syndrome (PWS)

Musthaffa Yassmin , Scheermeyer Elly , Hughes Ian , Harris Mark , Crock Patricia , Leong Gary

Background: Normal TF is necessary for optimal growth. Changes in the hypothalamic-pituitary-thyroid (HPT) axis following GH therapy are reported. GH therapy has been suggested to centrally inhibit TSH production as well as peripherally increasing T4 to T3 conversion which increases negative feedback on TSH production. Hypothalamic dysfunction is a feature of PWS, therefore these patients may be at risk of developing central hypothyroidism associated with GH therapy.<p cla...

hrp0086rfc14.2 | Growth : Mechanisms | ESPE2016

Contribution of GHR and IGFALS Mutations to Growth Hormone Resistance – Identification of New Variants and Impact on the Inheritance Pattern

Legendre Marie , Dastot Florence , Collot Nathalie , Duquesnoy Philippe , Cohen Enzo , Sobrier Marie-Laure , Adiceam Paola , Anderson Donald , Baron Sabine , Cabrol Sylvie , Callewaert Bert , Cartigny Maryse , Craen Margarita , Crock Patricia , Ladjouze Asmahane , Lazea Cecilia , Polak Michel , Savendahl Lars , Touzani Asmae , Amselem Serge

Background: Bi-allelic GHR mutations are classically responsible for Laron syndrome, a severe growth hormone (GH) resistance syndrome. A few GHR missense mutations have also been implicated in mild GH resistance or idiopathic short stature. IGFALS mutations are responsible for recessive or semi-dominant short stature with normal GH provocative test contrasting with extremely low IGF-I levels.Objective and hypotheses: To assess the contribution of GHR and...

hrp0095p2-214 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Central precocious puberty - an unusual paraneoplastic manifestation of a nephroblastoma?

Stancu Ana-Maria , Gheorghita Zubascu Patriciu , Iliescu Marina , Tarna Mihaela , Andrei Marian , Comsa Codruta , Antonie Lavinia , Nicoleta Cima Luminita , Fica Simona

Introduction: Nephroblastoma or Wilms tumor is the most common pediatric abdominal malignancy. Typically, it is found in children younger than 5 years old, girls being more likely to have Wilms tumor than boys. The etiology of the disease is genetic, due to alteration in the development of the genitourinary tract.[1] Treatment is represented by surgery (unilateral nephrectomy), chemo- and radio-therapy. Paraneoplastic endocrine disorders may occur, but there a...

hrp0092p3-114 | Fat, Metabolism and Obesity | ESPE2019

Rare Case of Acquired Generalized Lipodystrophy in A 14-Year Old Patient

Cristina Patricia Dumitrescu , Monica Mailat

Background: Lipodystrophies are a group of rare disorders characterized by varying degrees of body fat loss. The metabolic abnormalities associated with lipodystrophy include insulin resistance, often leading to diabetes mellitus, hypertriglyceridemia that may be severe enough to cause acute pancreatitis and hepatic steatosis that may lead to cirrhosis.They can be either genetic or acquired, generalized or partial. Acquired generalized l...

hrp0092p3-194 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Coincidental Central Precocious Puberty and Wilms Tumor

Kasongo Laura , Forget Patricia , Nicolescu Ramona

Introduction: Wilms tumor is the most frequent pediatric renal malignancy and its usual presentation is an abdominal mass or hematuria. Unusual presentations have also been reported, such as paraneoplastic syndromes (acquired von Willebrand disease, sudden death due to pulmonary embolism and Cushing syndrome). These conditions can precede, occur concomitantly or present in a later phase of tumor development. Precocious puberty, as paraneoplastic endocrine synd...

hrp0097p1-481 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2023

Treatment of Transient Hypothyroxinaemia Of Prematurity may improve premature newborns’ neurodevelopment. NEOTHYR, a multicentered retrospective cohort study about 373 subjects.

Bardet Angélique , Vincent Marine , Bretones Patricia

Background: Transient hypothyroxinaemia of prematurity (THOP), defined as low levels of FT4 without the expected TSH surge, may concern up to 50% of infants born <30 weeks’ gestational age. Most studies showed a link between THOP and impaired neurodevelopment, as shown in the review of Eerdekens. Data about the benefit of supplementation are scarce, with few randomised trials and inconclusive results. To date, there are no clear recommendations regard...

hrp0097p2-293 | Late Breaking | ESPE2023

Unveiling the Complexities of Growth Failure: A Captivating Case of Short Stature with Coexisting Chronic Conditions

Pascu Bogdan , Bocai Raluca , Anton Patricia

Background: Short stature is a common presentation in pediatric endocrinology and its etiologies encompass non-endocrine factors, endocrine disorders, and normal variations. Growth failure can serve as an alarmingly subtle indicator of underlying severe diseases, sometimes obfuscating multiple causative factors. Understanding the complexities involved in evaluating growth failure in the presence of chronic conditions is crucial for efficient management. This c...

hrp0092rfc13.6 | Adrenals and HP Axis | ESPE2019

Inhibitory Effects of Curcuminoids on the Enzymes from the Steroidogenic Pathway

Rodríguez Castaño Patricia , Pandey Amit V

Background: Turmeric is a popular ingredient in the cuisine of many Asian countries. It is also known for its use in Chinese and Ayurvedic medicine. It comes from the root of the Curcuma longa. Turmeric is rich in curcuminoids, including curcumin, demethoxycurcumin, and bisdemethoxycurcumin. Curcumin has potent anti-inflammatory and anti-carcinogenic activities. Since many anti-cancer drugs target enzymes from the steroidogenic pathway, we tested the bioactivi...

hrp0092p1-152 | Thyroid | ESPE2019

Thyroid Function Following Hemithyroidectomy in a Pediatric Cohort

Papendieck Patricia , Masnata Maria Eugenia , Bergada Ignacio , Chiesa Ana

Background: Studies about thyroid function following hemithyroidectomy are scarce in the literature and no studies include pediatric population.Objective: To describe thyroid function in pediatric patients who underwent a hemithyroidectomy.Design: Retrospective cohort study.Patients and Methods: Among the 38 patients who underwent hemithyroid...

hrp0089p1-p229 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

Prevalence of Hypogonadism in Prepubertal Boys with Cryptrochdism

Grinspon Romina P , Bedecarras Patricia , Gottlieb Silvia , Rey Rodolfo A

Introduction: Cryptorchidism has usually been managed using a surgical approach, with little attention to the underlying pathophysiology.Objectives: To assess gonadal function before treatment in prepubertal boys with cryptorchidism.Methods: In a cross-sectional study we reviewed all clinical charts of patients encoded with the diagnosis of cryptorchidism in the database of a paediatric tertiary hospital, between 2000 and 2017. Inc...