hrp0095p1-311 | Growth and Syndromes | ESPE2022

Variability of the Noonan syndrome phenotypic spectrum in four patients carrying novel LZTR1 gene variants

Meneghin Alice , Mozzato Chiara , Trevisson Eva , Guazzarotti Laura

Noonan syndrome is a genetic condition caused by dysregulation of RAS-MAPK pathway (RASopathy) characterized by great clinical variability and genetic heterogeneity. Many genes has been associated with the disease, including recently LZTR1, which is causative of both dominant and recessive forms. Currently less than one hundred cases of Noonan syndrome has been associated with LZTR1 variants then phenotype related to this gene is poorly known. Here we describ...

hrp0095p1-335 | Multisystem Endocrine Disorders | ESPE2022

Early endocrinological deficiencies can anticipate the diagnosis of mitochondrial diseases: phenotype evolution of a rare MT-TG gene variant

Mozzato Chiara , Carecchio Miryam , Salviati Leonardo , Zeviani Massimo , Guazzarotti Laura

Mitochondrial diseases are multisystemic disorders which often involve endocrine system, as defective oxidative phosphorylation can lead to decreased hormones production or secretion and all steroid hormones are synthesized in the mitochondria. Endocrine dysfunctions can therefore represent the initial symptoms of these pathologies and the incidence of various endocrinopathies varies between different mitochondrial disease. Diabetes mellitus is the most frequently described en...

hrp0092p1-418 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (2) | ESPE2019

Epidemiology of Diagnoses of Sex Development Disorders Based on the Registry of Rare Diseases, in a Large Area of North-Eastern Italy

Guazzarotti Laura , Censi Simona , Gutierrez Joaquin , Azzolini Sara

Background: Disorders of Sex Development (DSD) are a rare disease often caused by complex genetic mechanisms, with a wide spectrum of clinical manifestations that lead to a continous evolution of the diagnostic classification. From 2002, In the Veneto Region, all DSD diagnoses have been collected thanks to the creation of a Registry for Rare diseases, including DSD.Material and Methods: We could retrospectively analyze t...

hrp0097fc11.3 | GH and IGFs | ESPE2023

Analysis of a large panel of genes in a cohort of patients with severe short stature: detection rate and genotype-phenotype correlations

Guazzarotti Laura , Mozzato Chiara , Meneghin Alice , Nicolucci Antonio , Cassina Matteo

Short stature is a frequent reason for referral to pediatric endocrinologists and this phenotype has been associated with a large number of gene variations during the last decades, highlighting its complex and heterogeneous etiology. We evaluated the detection rate of the analysis of a selected gene panel in a cohort of patients with short stature defined as height below -2 standard deviations (SD). Overall, 134 patients were included in the study: 73 with GH deficiency (GHD),...

hrp0097p2-56 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Monogenic Diabetes (MODY) in Adolescents and Personalized Treatment.

Mozzato Chiara , Meneghin Alice , Monti Elena , Trevisson Eva , Guazzarotti Laura

Pathologically elevated serum levels of fibroblast growth factor-23 (FGF23), a bone-secreted hormone that regulates phosphorus homeostasis, result in renal phosphate wasting leading to rickets or osteomalacia. Patterns leading to FGF23 excess are still unknown. Recently, FGF23 elevated rickets has been associated with epidermal nevus syndrome, designating the cutaneous skeletal hypophosphatemia syndrome (CSHS). The clinical picture is not completely defined as, to date, only a...

hrp0097p2-174 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

HIgh variability of phenotypic expression of the same genotype in X linked hypophosphatemic rickets (XLH)

Meneghin Alice , Mozzato Chiara , Monti Elena , Guazzarotti Laura

X-linked hypophosphataemia (XLH) is a dominant disorder caused by mutations in PHEX (located at Xp22.1), associated with rickets, lower limb deformities, pain, poor mineralization of the teeth and disproportionate short stature in children. The characteristics and severity of XLH vary between patients. Early diagnosis and specific treatment is usually decisive to improve short and long term patient outcomes. We describe the variability of phenotype in two sisters carrying the ...

hrp0092lb-22 | Late Breaking Posters | ESPE2019

Two Novel Mutations of The LHX3 Gene Associated with a Severe Phenotype Involving Endocrine, Nervous and Skeletal Systems

Guazzarotti Laura , Azzolini Sara , Ulivi Sheila , Fabretto Antonella , Riello Francesca , Ardisia Carmela

LHX3, a member of the LIM-homeodomain transcription factors family, regulates pituitary development in vertebrates and the maintenance of mature anterior pituitary cells. Nineteen mutations in LHX3 gene have been reported in HGMD database, in homozygous and compound heterozygous patients. The phenotype may present with pituitary dysfunction only or with syndromes involving also nervous and skeletal systems. The MRI images include aplasia or hypoplasia of pitui...

hrp0084p2-502 | Perinatal | ESPE2015

Auxological Parameters, Endocrine Growth Factors and Insulin Resistance from Birth to 12 Months of Life in Children Born Small for Gestational Age

Guazzarotti Laura , Mauri Silvia , Occhipinti Federica , Petruzzi Mariangela , Sonnino Micol , Tenconi Andrea Angela , Pogliani Laura , Zuccotti Gian Vincenzo

Background: At present, literature regarding postnatal growth in small for gestational age (SGA) subjects and itsÂ’ correlation with growth factor levels is still controversial. A relation between IGF1 and IGFBP3 levels at birth and weight and length catch up growth has been demonstrated. In the first months of life a rapid weight catch-up growth has also been associated to an increase of leptin, basal insulin and insulin resistance.Objective and hyp...

hrp0084p3-984 | Gonads | ESPE2015

Management of Prepubertal Gynecomastia in Two Patients with Peutz-Jeghers Sydrome: Use of Aromatase Inhibitors

Guazzarotti Laura , Mauri Silvia , Occhipinti Federica , Petruzzi Mariangela , Sonnino Micol , Tenconi Andrea Angela , Pogliani Laura , Zuccotti Gian Vincenzo

Background: Peutz-Jeghers syndrome (PJS) is a rare autosomal-dominant disorder frequently caused by the serine-threonine-kinase-11(STK11) gene mutation and characterized by hamartomatous polyps throughout the gastrointestinal tract, mucocutaneous hyperpigmentation and predisposition to several malignancies. Rarely, PJS may be associated to an oestrogen producing large cell calcifying Sertoli cell tumour that may result in gynecomastia and increased growth velocity (GV).<p ...

hrp0092p1-300 | Adrenals and HPA Axis (2) | ESPE2019

Growth Trajectory and Final Height in Children with Non Classical Congenital Adrenal Hyperplasia

Wasniewska Malgorzata , Morabito Letteria Anna , Baronio Federico , Einaudi Silvia , Salerno Maria Carolina , Bizzarri Carla , Russo Gianni , Chiarito Mariangela , Grandone Anna , Guazzarotti Laura , Spinuzza Antonietta , Di Carlo Silvia , Ortolano Rita , Balsamo Antonio , Abrigo Enrica , Ferroli Barbara Baldini , Alibrandi Angela , Capalbo Donatella , Faienza Maria Felicia

Background: Subjects with non classical congenital adrenal hyperplasia (NCCAH) often present an increased growth velocity secondary to elevation of adrenal androgens that promote early bone maturation and compromise final height (FH). The aim of the study was to analyze prognostic factors affecting growth trajectory and FH in children with NCCAH.Design: retrospective, multicentric studyStud...