hrp0094p2-479 | Thyroid | ESPE2021

Thyroglobulin deficiency: a rare cause of neonatal stridor

Tseretopoulou Xanthippi , Reddy Nithya , Pinnamaneni RagaMallika , Jonas Nicolaas , Schoenmakers Nadia , Walton-Betancourth Sandra

Background: Nonimmune neonatal goitrous hypothyroidism is a rare cause of neck mass and stridor. Retropharyngeal extension, described in 7% of cases of goitre spreading outside the thyroid bed, represents a diagnostic dilemma that requires a systematic multimodality imaging approach combined with hormonal and genetic analysis. We report the case of a one-week-old baby who presented with stridor and respiratory distress, without palpable neonatal goitre and whose biochemical pr...

hrp0095p1-307 | Growth and Syndromes | ESPE2022

A Prospective Clinical Trial of Vosoritide in Hypochondroplasia: Baseline Demographics and Preliminary Results

Dauber Andrew , McCarthy Tara , Zhang Anqing , Merchant Nadia , Boucher Kimberly , Dham Niti , Kanakatti Shankar Roopa

Objectives: Vosoritide is a C-type natriuretic peptide analog which binds its receptor on chondrocytes, leading to increased chondrocyte proliferation and differentiation via its inhibition of the ERK1/2-MAPK pathway. It was recently approved for increasing linear growth in children with achondroplasia. This is the first study to examine the safety and efficacy of vosoritide in children with hypochondroplasia.Methods: Th...

hrp0092p2-39 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Bone Mineral Status in Adults with Congenital Adrenal Hyperplasia due to 21-hydroxylase Deficiency

Othman Wafa Ben , Hadjkacem Faten , Gargouri Imen , Safi Wajdi , Charfi Nadia , Rekik Nabila , Kamoun Thouraya , Mnif Mouna , Abid Mohamed

Introduction: 21-Hydroxylase deficiency is the most frequent inborn error of steroidogenesis causing congenital adrenal hyperplasia (CAH). Bone status is affected by chronic glucocorticoid therapy and excess androgen exposure in patients with CAH. Our objective is to evaluate the bone mineral metabolism and density in adulthood in a Tunisian cohort.Subjects and Methods: We underwent a prospective study of 26 patients ove...

hrp0092p3-97 | Fat, Metabolism and Obesity | ESPE2019

Metabolic Syndrome in Adults with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Gargouri Imen , Hadjkacem Faten , Safi Wajdi , Ghorbel Dorra , Nabila Rekik , Nadia Charfi , Kamoun Thouraya , Mnif Mouna , Abid Mohamed

Introduction: 21-Hydroxylase deficiency is the most frequent form of congenital adrenal hyperplasia (CAH) which is a common autosomal recessive disorder characterized by impaired adrenocortical and adrenomedullary function, and adrenal hyperandrogenism. Chronic glucocorticoid therapy and excess androgen exposure in patients with CAH may predispose them to developing a metabolic syndrome in adulthood.Our objective is to evaluate the metabolic syndrome in adulth...

hrp0092p3-238 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Bilateral Testicular Atrophy and Normal Inhibin B level: A Paradoxal Clinical Finding For A Rare Biochemical Cause !

ESSADDAM Leïla , PIKETTY Marie , KALLALI Wafa , GUEDRI Rahma , GONZALEZ Laura , MATTOUSSI Nadia , POLAK Michel , BEN BECHER Saayda

Background: Testicular atrophy is a rare complication following inguinal hernia repair particularly in children<2 years and those with an undescended testis at highest risk> with an undescended testis. Inhibin B is secreted from the testis as a product of Sertoli cells, and has been suggested as a good marker for spermatogenesis. Its value is expected to be very low in children with bilateral testicular atrophyCase Report...

hrp0092p3-252 | Thyroid | ESPE2019

An Unusual Presentation of Hypothyridism: Van Wyk-Grumbach Syndrome

Gargouri Imen , Hadjkacem Faten , Safi Wajdi , Ben Othman Wafa , Charfi Nadia , Rekik Nabila , Mnif Mouna , Abid Mohamed

Introduction: The association of juvenile hypothyroidism, precocious puberty and ovarian enlargement is known as Van Wyk and Grumbach syndrome (VWGS). This diagnosis is considered on the basis of imaging findings and thyroid function analysis.Case report: Herein we report a case of 9 years old girl was referred to the endocrinology department with a suspicion of precocious puberty after having progressive breast enlargem...

hrp0086p1-p197 | Diabetes P1 | ESPE2016

Diagnosis of Non-Autoimmune Paediatric Diabetes by Targeted Next Generation Sequencing (NGS): Findings in Two Families with Rare Mono- and Digenic forms of Diabetes

Poidvin Amelie , Donath Xavier , Saint-Martin Cecile , Loison Sylvie , Carel Jean-Claude , Bellanne-Chantelot Christine , Tubiana-Rufi Nadia

Background: Nearly 10% of paediatric onset diabetes are auto-antibodies negative. Among them monogenic diabetes are frequently under-diagnosed. The major increase in the prevalence of childhood obesity is misleading with a risk of confusion between type 2 diabetes (T2D) and monogenic causes of diabetes.Objective and hypotheses: To report on two informative families with negative auto-antibodies childhood-onset diabetes cases.Method...

hrp0086p2-p398 | Gonads &amp; DSD P2 | ESPE2016

Nonclassic Congenital Adrenal Hyperplasia and Functional Ovarian Hyperandrogenism Diagnosed During the Transition Period: Differences in Clinical, Hormonal and Metabolic Aspects

Boquete Hugo , Azaretzky Miriam , Llano Miriam , Jose Iparraguirre Maria , Schwartz Nadia , Suarez Martha , Boquete Carla , Sobrado Patricia , Fideleff Hugo

Introduction: Hyperandrogenism is a common presenting complaint during the transition period; however, clinical, hormonal and metabolic parameters in these patients have not been yet adequately characterized.Objective: To evaluate the disease-related history, clinical presentation and biochemical parameters in patients diagnosed during this period with nonclassic congenital adrenal hyperplasia (NCCAH) due to 21α hydroxylase deficiency and patients w...

hrp0086p2-p581 | Perinatal Endocrinology P2 | ESPE2016

Missense Mutation of GLIS3 Gene Resulting Inneonatal Diabetes and Congenital Hypothyroidism

Alghazir Nadia , Fathalla Omalmir Gedafi , Hadeed Ibtisam , Algouil Milad , Abusag Milad , Doggaha Milad , Alsahli Hamida , Abusrewil Suliman , Philipson Louis Philipson

Background: Neonatal diabetes, diabetes diagnosed before six months of age, is rare, with incidence of approximately 1:90 000–160 000 live births. In approximately half of cases, neonatal diabetes istransient and usually resolves between 6 and 18 months of life. In the remainder of cases, the diabetes is permanent. Mutations in the GLI-similar 3 (Glis3) gene encoding the transcription factor GLIS3 are a rare cause of permanent neonatal diabetes and conge...

hrp0084p1-163 | Miscelleaneous | ESPE2015

Paediatric Thyroid Nodule Score: Derivation and Validation of a Predictive Score for Thyroid Nodule Assessment in Children

van der Kaay Danielle , Wasserman Jonathan , Akseer Nadia , Roskies Michael , Liberte Frederique la , Nguyen Lily , Puligandla Pramod

Background: Differentiated thyroid carcinoma has an incidence of 15.2 per 100 000 in adolescents. The clinical challenge is identifying nodules requiring further intervention. Current modalities, in isolation, have poor ability to reliably differentiate benign from malignant nodules.Objective and hypotheses: To derive and validate a predictive score that integrates clinical, laboratory, radiological and cytopathological parameters to define malignancy ri...