hrp0092p3-177 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Endocrine and Mammary Disorders in Girl with Cornelia De Lange Syndrome (Case History)

Gumeniuk Olga , Chernenkov Yurii , Petrova Ekaterina , Leonovich Anastasiia

Cornelia de Lange syndrome is a genetic disorder with physical, cognitive, somatic and endocrine disorders. Objective. To study endocrine and mammary disorders in girl with Cornelia de Lange syndrome. Objective and hypotheses: We describe a clinical case of Cornelia de Lange syndrome in girl, 10 y.o.Method: Total examination (includingmammological and gynecological examination), hormonal analysis, thyroid, mammological and gynecological ...

hrp0089p3-p385 | Thyroid P3 | ESPE2018

Rare Case Report of Thyroiditis De Quervain in a Six Years Old Girl

Liapi Maria , Jorch Norbert , Hamelmann Eckard

Introduction: Subacute thyroiditis or De Quervain’s Thyroiditis is a self-limited inflammatory thyroid disease that is considered to be caused by a viral infection. Its incidence during the first decade of life is extremely rare. During the acute phase of the disease which lasts 2 to 6 weeks, the inflammatory process results in a temporary release of thyroid hormone with biochemical hyperthyroidism with or without symptoms. This phase is followed by a period with failing ...

hrp0084p3-770 | Diabetes | ESPE2015

Particularités de la prise en charge du diabète Type 1 chez des enfants dont la révélation est survenue avant l’âge de five ans

Wafaa Mazari , Khadidja Bouriche , Djawida Senouci , Yasmine Zerga , Snaa Chiali , Salih Bendeddouche

Introduction: Le diabète de type 1 est l’endocrinopathie la plus fréquente chez l’enfant. Son incidence est en nette progression dans le monde. L’enfant diabétique nécessite une hygiène de vie adaptée et le suivi par une équipe pluridisciplinaire composée de pédiatre spécialiste en diabétologie, psychologue, diététicien, infirmier spécialisé.Objectif: Determiner les...

hrp0082p2-d2-473 | Growth (1) | ESPE2014

GH Deficiency in a Child With De Novo 2q31.1 Microdeletion

Kaloumenou Irene , Karachaliou Feneli , Vlachopapadopoulou Elpis-Athina , Fotinou Aspasia , Michalacos Stefanos

Background: The clinical phenotype of the chromosome 2q31 deletion syndrome consists of a variety of limb abnormalities and other skeletal defects, craniofacial dysmorhic features, developmental delay, and other not specific congenital anomalies.Objective and hypotheses: To describe a patient with 2q31.1 microdeletion syndrome and short stature, diagnosed with GH deficiency.Method: We describe a 5 years and 4 months girl with devel...

hrp0084p1-160 | Miscelleaneous | ESPE2015

Septo-Optic Dysplasia Associated with Koolen-de Vries Syndrome: A Case Report

Aroyo Ani , Stoeva Iva , Stancheva Gergana , Koleva Reni , Kaneva Radka

Background: Septo-optic dysplasia (SOD) is a rare congenital anomaly, clinically heterogeneous, combining optic nerve and pituitary gland hypoplasia, midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum. The diagnosis is made when two or more features of the classic triad are present. HESX1, SOX2, SOX3, FGF8, FGFR1, PROKR1, SHH, are implicated in the etiology of SOD.Objective and hypotheses: Description of a ...

hrp0097p2-262 | Late Breaking | ESPE2023

A new case of Malan Syndrome with de novo NFIX sequence variants and a review of the literature

Leng Jie , Cheng Xinran

Background: We report clinical and molecular cytogenetic characterization of a 13-year-7-month-old boy with a Sotos-like phenotype and de novo NFIX deletions and review the literature.Result: A whole exome sequencing revealed in the present patient with unique clinical phenotypes a de novo frameshift mutation c.570-573delATCA (p.S191Ifs*19) in NFIX gene in 19p13.2.Discussion: The p...

hrp0097p1-538 | Multisystem Endocrine Disorders | ESPE2023

Endocrine Late Effects In Survival Children With High-Risk Neuroblastoma From Italian Tertiary Hospital

Mirra Giulia , Deodati Annalisa , Ubertini Graziamaria , Elisa Amodeo Maria , Antonietta De Ioris Maria , Mastronuzzi Angela , Cavallo Federica , Grossi Armando

Background: The treatment of high-risk neuroblastoma still represents a clinical challenge in pediatric oncology. About 50% of children survive after a multimodal treatment based on conventional and high dose chemotherapy, surgery, radiotherapy, differentiating treatment and immunotherapy.Aim: To evaluate endocrine long-term sequels in a pediatric cohort with high-risk neuroblastoma.Patient...

hrp0095rfc1.3 | Thyroid | ESPE2022

The importance of extra-endocrine features at infancy in multiple endocrine neoplasia type 2B for early diagnosis

Giulia Mirra , Annalisa Deodati , Maria Elisa Amodeo , D'Aniello Francesco , Armando Grossi , Emanuele Agolini , Marco Cappa , Grazia Maria Ubertini

Background: Multiple endocrine neoplasia type 2B is a rare genetic syndrome caused by germline mutations in the RET proto-oncogene. Approximately 75% of MEN2B cases are sporadic and caused by de novo RET mutations, whereas 25% of cases occurs in families with an autosomal dominant inheritance. The most common RET mutation found in 95% of MEN2B patients is the substitution of the amino-acid threonine for methionine at codon 918. In infants with de novo mutation...

hrp0089p1-p222 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

A De Novo Missense Mutation in the 4th Zinc Finger of the WT1 Gene Causes 46,XY and 46,XX DSD in Two Sibs

Bertalan Rita , Gellen Balazs , Eozenou Caroline , McElreavey Kenneth , Bashamboo Anu

The WT1 gene has a crucial role in the genesis of the bipotential genital ridge and subsequently in the specification of the Sertoli cells of testis. Mutations involving the WT1 gene are associated with a wide range of phenotypes impacting testis-determination and development including Denys-Drash syndrome, Frasier syndrome and Meacham syndrome. Here, we describe two sibs with DSD carrying a de novo mutation in the WT1 gene. A girl was born with Prader IV intersex genitals. Cy...

hrp0089p3-p099 | Diabetes & Insulin P3 | ESPE2018

Case Report: De Novo Mutation of Foxp3 Causing Mild Phenotype of Immunodysregulation, Polyendocrinopathy, Enteropathy, X-Link Syndrome

Thuy Hoang Thi Diem , Minh Nguyen Khoa Binh

Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome (IPEX) is caused by mutations in the gene that encode for the transcription factor FOXP3. IPEX is a rare, often fatal disease. However, several cases present later onset, mild forms or less common clinical manifestations. We report a case who had de novo mutation of FOXP3 causing neonatal diabetes but without other features of IPEX syndrome. An 8 days old male, late preterm at 36 weeks, low birthweight 2200g...