hrp0082p3-d2-835 | Growth (1) | ESPE2014

An Unusual Case of a Child with GH Deficiency and Arnold-Chiari Malformation Type I

Xatzipsalti Maria , Polychroni Ioulia , Vazeou Andriani , Stamogiannou Lela

Background: Arnold-Chiari malformations (CM), types I-IV, refer to a spectrum of congenital hindbrain maldevelopments characterized by downward herniation of the cerebellar tonsils. CM-I is defined as tonsillar herniation of 3–5 mm below the foramen magnum and is the most common and the least severe of the spectrum.Objective and hypotheses: Children with CM-I usually are asymptomatic and often diagnosed in adulthood, therefore early presentation of ...

hrp0089p2-p381 | Thyroid P2 | ESPE2018

Autoimmune Thyroiditis in Klippel-Feil Syndrome with Arnold Chiari and Syringomyelia

Guidoni Elisa , Lotti Federica , Geronzi Ursula , Arianna Sorrentino Laura , Municchi Giovanna

Introduction: Klippel-Feil Syndrome (KFS), prevalence of 1:40000, is characterized by congenital fusion of cervical vertebrae; three major features are short neck, low hairline at the back of the head and a limited range of motion in the neck. The phenotypic expression is variable, presenting with other vertebral abnormalities (congenital high scapula, scoliosis, kyphosis, spina bifida, hemivertebrae) or extra skeletal symptoms such us deafness, renal, heart or neurological ab...

hrp0089p2-p044 | Bone, Growth Plate & Mineral Metabolism P2 | ESPE2018

High Incidence of Cranial Synostosis and Chiari Malformation in Children with X-linked Hypophosphatemic Rickets

Rothenbuhler Anya , Bacchetta Justine , Fadel Nathalie , Lambert Anne Sophie , Adamsbaum Catherine , Linglart Agnes , Rocco Federicco Di

Background: X-linked hypophosphatemic rickets (XLH) represents the most common form of hypophosphatemia and leads to vitamin D resistant rickets in children. Even though cranial vault and craniovertebral anomalies of potential neurosurgical interest, namely early closure of the cranial sutures and Chiari type I malformation- have been observed in XLH patients their actual incidence is not established.Aim: Describe and analyze the incidence of cranial and...

hrp0092p2-8 | Adrenals and HPA Axis | ESPE2019

Novel TBX19 Mutation as Cause of Hypoglicemia in Two Siblings

Castagna Andrea , Bottero Arianna , Ruggiero Jessica , Viola Anna , Perrotti Chiara , Oprandi Daniela , Rossi Stefano , Badolato Raffaele , Cutrì Maria Rosa , Mingotti Chiara , Grazzani Livia , Buzi Fabio , Pilotta Alba

We describe a female neonate born from consanguineous parents who presented at birth with respiratory distress and severe hypoglycemia. At six months of age, the child was admitted to the Intensive care Unit because of two critical episodes characterized by fever and loss of consciousness. Child condition were critical and suggestive of sepsis, but blood tests showed severe hypoglycemia (19 mg/dl), hyponatremia (Na 132 mmol/l), compensated metabolic acidosis and increased infl...

hrp0095rfc10.3 | GH and IGFs | ESPE2022

A rare HESX1 variant in a patient with congenital hypopituitarism

Anastasia Ibba , Paraluppi Valentina , Lussu Anna , Guzzetti Chiara , Casula Letizia , Loche Sandro

Background: Congenital hypopituitarism (CH) is characterized by a deficiency of one or more pituitary hormones. Mutations in the genes coding for transcription factors, such HESX1, involved in the development of the pituitary, determine a highly variable phenotype which may include severe midline defects, septo-optic dysplasia and other congenital abnormalities. A small number of HESX1 variants have been identified in humans. The phenotype sh...

hrp0095p1-303 | GH and IGFs | ESPE2022

Short stature due to a novel missense variant (695C>A) in the GHR gene: a case report.

Righi Beatrice , Trimarchi Gabriele , De Fanti Alessandro , Garavelli Livia , Sartori Chiara , Elisabeth Maria

Introduction: Laron Syndrome (LS) or primary growth hormone (GH) insensitivity is an autosomal recessive disorder due to variants in the GH-receptor (GHR) gene or to post-receptor defects. LS prevalence is estimated 1-9/1000000. We report a case of LS with a missense variant in the GHR gene not previously described.Case: female, Turkish, was referred to our clinic for short stature. Born at term, birth ...

hrp0095p1-503 | GH and IGFs | ESPE2022

Adult Height in Patients with Non-Permanent, Idiopathic and Isolated Growth Hormone Deficiency

Guzzetti Chiara , Murianni Agnese , Ibba Anastasia , Casula Letizia , Salerno Mariacarolina , Cappa Marco , Loche Sandro

Background: GH secretion is classically assessed by provocative tests and, indirectly, by IGF-1 serum levels. However, their diagnostic accuracy is low. The aim of the study was to evaluate the adult height (AH) in short patients with IGF-1 ≤-1,5 SDS.Method: 52 short patients (height-SDS -2.6 (-3.1- -2.3), age 12.2 (10.2-13.7) y, 36 boys), with low height velocity(HV)-SDS (-1.6 (-3.2- -0.9)) and IGF-1 ≤-1,5 SDS (-2...

hrp0095p1-533 | Growth and Syndromes | ESPE2022

Central Precocious Puberty in McCune Albright Syndrome: a case report.

Righi Beatrice , Peluso Francesca , De Fanti Alessandro , Garavelli Livia , Elisabeth Street Maria , Sartori Chiara

Introduction: McCune Albright Syndrome (MAS) is a rare disorder caused by somatic activating mutations of the GNAS gene, characterized by monostotic/polyostotic fibrous dysplasia, café au lait skin pigmentation and hyperfunctioning endocrinopathies. We report a case of MAS presenting with mild phenotypic characteristics and central precocious puberty (CPP).Case: Indian female was referred to our clinic fo...

hrp0092p1-428 | Thyroid (2) | ESPE2019

Anti-Gastric Parietal Cells Antibodies for Autoimmune Gastritis Screening: A Follow-Up Study in Young Patients with Autoimmune Thyroid Disease.

Calcaterra Valeria , Montalbano Chiara , Vinci Federica , Miceli Emanuela , Regalbuto Corrado , Albertini Riccardo , Larizza Daniela

Introduction: The association between ATD and AIG is very poorly characterized in pediatric age. We review the prevalence of the anti-gastric parietal cells antibodies (APCA) in young patients with ATD and we evaluated the development of AIG during follow-up, in order to define the usefulness of these markers for AIG screening in these patients.Patients and Methods: We evaluated 220 children and adolescents (11.28 ±...

hrp0092p2-64 | Diabetes and Insulin | ESPE2019

Autoimmune Thyroid Diseases in Children and Adolescents with Maturity Onset Diabetes of the Young

Calcaterra Valeria , Regalbuto Corrado , Dobbiani Giulia , Vinci Federica , Montalbano Chiara , Larizza Daniela

Background and Aim: The relationship between T1DM and autoimmune thyreopathies is known and described, but the relationship between thyreopathies and other type of diabetes is not sufficiently clarified in pediatric age. The aim of our study was to assess the prevalence of autoimmune thyroid diseases (ATD) in children and adolescents with maturity onset diabetes of the young (MODY) in comparison with patients with T1DM and control group....