hrp0094p1-73 | Fetal Endocrinology and Multisystem Disorders A | ESPE2021

Minipuberty in born small for gestational age infants: a case control prospective pilot study

Pepe Giorgia , Calafiore Mariarosa , Velletri Maria Rosa , Corica Domenico , Aversa Tommaso , Mondello Isabella , Alibrandi Angela , Wasniewska Malgorzata ,

Objective: Minipuberty (MP) is still not well defined in small for gestational age (SGA) infants, due to controversial literature data. The present study aims to evaluate MP in SGA infants, both preterm and full-term, compared with those born adequate for gestational age (AGA), during the first year of life.Design: Case-Control, Prospective Study.Methods: The study population included 33 SGA newbor...

hrp0094p2-68 | Bone, growth plate and mineral metabolism | ESPE2021

Mutational analysis and genotype-phenotype correlation of the PHEX gene in Brazilian patients with X-linked hypophosphatemic rickets

Samartino Ana , Azevedo Eduardo , Peixinho Julha , Marcatto Fernanda , Silva Isabella , Nunes Julia , Carneiro Zumira , Hirose Thiago , Lourenco Charles ,

Background: X-Linked hypophosphatemic rickets (XLH) is a disorder of phosphate homeostasis, characterized by renal phosphate wasting and hypophosphatemia, with normal to low 1,25-dihydroxy vitamin D3 serum levels. PHEX is the gene defective in XLH and different mutations and genomic rearrangements have been described in different families affected by this disease.Objectives: To detect inactivating mutations in the PHEX g...

hrp0092p2-61 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Osteogenesis Imperfecta: Genetic Evaluation

Castro-Feijoo Lidia , de la Torre Marina , Cabanas Paloma , Pino Jesus , Pombo Manuel , Barreiro Jesus , Loidi Lourdes

Osteogenesis imperfecta (OI) is a rare, hereditary bone dysplasia with a broad clinical spectrum that includes skeletal and extra-skeletal manifestations. It is genetically heterogeneous and there are multiple described mutations that explain the clinical variability of this entity and make it difficult to establish a genotype-phenotype correlation.Objectives: To evaluate the clinical and genetic characteristics of the patient with OI.</...

hrp0084p1-66 | DSD | ESPE2015

46, XX Ovotesticular DSD in the Absence of SRY Gene Associated to SOX3 Duplication

Grinspon Romina P , Nevado Julian , Alvarez Maria de los Angeles Mori , Rey Rodolfo A , del Rey Graciela , Chiesa Ana

Background: Ovotesticular DSD is a rare disorder defined by the presence of both ovarian and testicular tissues in the same individual. SRY is present in approximately 1/3 of patients with 46, XX ovotesticular DSD. In SRY-negative ovotesticular DSD, the mechanism responsible for the presence of testicular tissue is not yet understood.Case presentation: A male patient was referred to us for hypospadias and bilateral cryptorchidism at 2.5...

hrp0086p2-p149 | Bone &amp; Mineral Metabolism P2 | ESPE2016

Bone Status in a Patient with IGF-I Receptor Deletion Syndrome: Bone Quality and Structure Evaluation Using DXA, pQCT, and QUS

Stagi Stefano , Pelosi Paola , Scalini Perla , Cavalli Loredana , Pantaleo Marilena , Lapi Elisabetta , Martino Maurizio de

Background: Various aspects of IGF1R defects have been analysed to date, but the effects of IGF1R haploinsufficiency bone status and metabolism were rarely investigated.Objective and hypotheses: To study bone metabolism and structure in a case of Insulin-like growth factor-I (IGF-I) receptor (IGF1R) gene deletion.Method: Genetic analysis, GH stimulation, rhGH treatme...

hrp0095p2-55 | Diabetes and Insulin | ESPE2022

A case of de novo ABCC8 gene mutation resulting in Transient Neonatal Diabetes

Clemente Marisa Ferreira

Neonatal diabetes is characterised by hyperglycaemia in the first 6 months of life. Transient neonatal diabetes (TND) is differentiated from permanent neonatal diabetes by its remission in infancy/early childhood, with possible relapse during adolescence in 50% of the cases. Incidence of neonatal diabetes is thought to range from 1:90,000 to 1:160,000. A gene mutation affecting pancreatic beta cells synthesis/secretion of insulin is present in more than 80% of the cases. Overe...

hrp0092p2-81 | Diabetes and Insulin | ESPE2019

A de novo Pathogenic Heterozygous Mutation of the Insulin Receptor gene in a Patient with type A Insulin Resistance Syndrome

Sun Manqing , Wang Wei , Lu Wenli , Zhang Lidan , Dong Zhiya , Xiao Yuan , Ma Xiaoyu , Ni Jihong , Wang Defen

Background: Defects of the insulin receptor gene (INSR) can cause genetic syndromes associated with a wide diverse range of congenital insulin resistance from milder insulin-resistant diabetes mellitus (Type A insulin resistance syndrome, TAIRS) to leprechaunism (Donahue syndrome). Clinical features in TAIRS vary due to the severity of damage in INSR, precise diagnosis is challenging.Materials and Methods</stron...

hrp0089p3-p238 | Growth &amp; Syndromes P3 | ESPE2018

Hypothyroidism and Growth Hormone (GH) Deficiency, a Spotlight on De Novo Chromosomal 20p11.2 Deletion

Mohammed Idris , Al-Khawaga Sara , Hannah Reem , Saraswathi Saras , Haris Basma , Saeed Amira , Shararri Sanaa , Hussain* Khalid

Background: There are few reports describing proximal deletions of chromosome 20p, making it difficult to predict the likely consequences of the deletion in this area. One report has described a proximal 20p11.2 deletion associated with panhypopituitarism, craniofacial dysmorphism, a small phallus with a semi bifid scrotum, and bilateral widely separated first and second toes. The only other report has demonstrated neurodevelopmental abnormalities associated with band 20p11.2 ...

hrp0089p3-p288 | Pituitary, Neuroendocrinology and Puberty P3 | ESPE2018

Bilateral Optic Nerve Hypoplasia Revealing Septo Optic Dysplasia or De Morsier Syndrome: A Case Report

Yamina Aribi , Meriem Bensaleh , Lila Brakni , Zoubir Sellal , Aicha Lachkhem , Samia Ouldkablia

Background: Septo-optic dysplasia (SOD) is a congenital affection characterized by classic triade: optic nerve hypoplasia, hypothalamic-pituitary endocrine deficits and mdline abnormalities of the brain. It is typically diagnosed in infancy and has a variable presentation.Case presentation: The patient is an 5 year old Algerian girl. At birth, bilateral congenital nystagmus and strabism was noted? Right blindness was suspected by parents at age of 2 year...

hrp0084p2-466 | Growth | ESPE2015

Whole Exome Sequencing Identifies De Novo HRAS Mutation Underlying Primary IGF1 Deficiency (PIGFD)

Grosse Greta , Hilger Alina , Draaken Markus , Ludwig Michael , Reutter Heiko , Lorenzen Franziska , Woelfle Joachim

Background: Primary IGF1 deficiency (PIGFD) is a rare condition defined by low IGF1 levels, GH sufficiency and absence of secondary causes of growth failure. PIGFD is an approved indication for treatment with recombinant IGF1 (rIGF1). Its genetic causes remain largely unknown.Objective and hypotheses: To elucidate genetic causes of PIGFD.Method: Clinical phenotyping followed by trio-based whole-exome sequencing (WES) in 11 complete...