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...

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...

hrp0095p1-347 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Congenital hypogonadotropic hypogonadism and Cornelia de Lange Syndrome share clinical phenotype and genetic background

Kolesinska Zofia , Xu Cheng , Messina Andrea , Acierno James , Niederlander Nicolas , Santoni Federico , Papadakis Georgios , Pignatelli Duarte , Avbelj Stefanija Magdalena , Smith Kimberly Keefe , Balasubramanian Ravikumar , Crowley William , Pitteloud Nelly

Background: Congenital hypogonadotropic hypogonadism (CHH) is caused by impaired function of GnRH neurons, which clinically manifests by incomplete or absent puberty and infertility. The phenotype may be broader with other developmental anomalies such as anosmia, which is known as Kallmann syndrome. To date, there are more than 40 genes in which mutations underlie CHH. Cornelia de Lange Syndrome (CdLS) is characterized by facial dysmorphia, psychomotor delay, ...

hrp0095p2-108 | Fat, Metabolism and Obesity | ESPE2022

A Noval De Novo PHIP Variant Contributing to Chung-Jansen Syndrome: a case report and review

Huang Feiyan , Liang Liyang , Hou Lele , Zhang Lina , Meng Zhe

Objectives: To present Chung-Jansen Syndrome or CHUJANS by a de novo variant in the pleckstrin homology domain-interacting protein (PHIP) gene and compare the clinical phenotype with previous case reports; ②To provide a novel genetic detection methods with whole-exome sequencing(WES) and whole genome sequencing(WGS) and Sanger sequencing for rare genetic diseases.Patients and methods: Following collecting clinical...

hrp0092p2-46 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Seasonal 25-hydroxy Vitamin D3 Variations in School-aged Children from Santiago de Chile

Poggi Helena , Dominguez Gonzalo , Monica Arancibia , Moore Rosario , D'Apremont Ivonne , Solari Sandra , Allende Fidel , Sifaqui Sofia , Garcia Hernan , Martinez-Aguayo Alejandro

Introduction: The main role of Vitamin D (VitD) is the regulation of calcium, which is also regulated by the parathyroid hormone (PTH), and phosphate metabolism. The main source of the more biologically active 25-hydroxy-Vitamin D3 (25OHVitD3) comes from the action of ultraviolet light on the skin.Aim: To determine if there are differences in concentrations of 25OHVitD3, calcium and PTH in school-aged children throughout...

hrp0097p2-158 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

A case of male pseudoermaphroditism (46,XY DSD) in an adolescent with a novel de novo NR5A1 gene variant.

Kostopoulou Eirini , Samkinidou Efstratia , Sertedaki Amalia , Efthymiadou Alexandra , Giannakopoulos Aristeidis , Hyun Seong-In , Lee Hane , Hun Seo Go , Chrysis Dionisios

Introduction-Purpose: In addition to chromosomal abnormalities, a number of genes have been implicated as causes of Disorders of Sexual Development (DSD). The NR5A1 (SF-1) gene expresses a transcription factor that plays a role in steroidogenesis by controlling multiple stages of adrenal and gonadal development, and its mutations have been reported in cases of DSD.Case presentation: A 152/12-year-old teenager ...

hrp0098rfc14.4 | Fetal and Neonatal Endocrinology | ESPE2024

Neurodevelopmental response to nifedipine treatment in an infant with Congenital Hyperinsulinism due to de novo gain-of-function CACNA1D variant.

Pujari Divya , Conlon Alison , Wakeling Emma , Houghton Jayne , Flanagan Sarah , Eldred Carey , Starling Luke , Kaliakatsos Marios , Dastamani Antonia

Introduction: Congenital hyperinsulinism (CHI) is a rare condition often caused by variants in genes that regulate insulin production. Among the 30 genes identified, CACNA1D, which encodes L-type calcium channels in various cells, is a rare cause. Variants in CACNA1D lead to a multisystem disorder characterized by developmental delay, intellectual disability, autism, hypotonia, seizures, primary aldosteronism, CHI, hearing loss, visual issues...