hrp0095p2-47 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Severe hypophosphatemia in a girl with vitamin D-dependent rickets type I: a case report

Menichetti Sofia , Ferrari Marta , Stagi Stefano

Introduction: Vitamin D-dependent rickets type I (OMIM # 264700) is a rare autosomical recessive disorder that affects vitamin-D metabolism characterized by severe hypocalcaemia with moderate hypophosphatemia. The most common form is type IA, caused by the mutation of gene coding for 1-alpha-hydroxylase (CYP27B1OMIM * 609506. 12q14) that converts the 25-OH-vitaminD in 1,25-OH-vitaminD.Case report: A 2.3 years female with...

hrp0095p2-290 | Thyroid | ESPE2022

Acquired Hypothyroidism in Children: Hypertrichosis as unusual presentation. A Case Report.

Varriale Gaia , Stagi Stefano , Ricci Franco

Introduction: Thyroid diseases are among the most common endocrine disorders affecting children and adolescents. These conditions are often associated with a wide range of skin disorders such as xerosis, mixedema, hypohidrosis, eczema, and more rarely hypertrichosis.Case: A 5-year-old female child was referred to our clinic due to short stature, Cushingoid appearance and marked hypertrichosis. At birth length and weight ...

hrp0097p2-168 | Adrenals and HPA Axis | ESPE2023

Cushing’s Disease: an Example of Drug Shortage’s Impact in Pediatric Endocrinology.

Del Medico Giulia , Chiti Nicolo' , Stagi Stefano

Cushing’s disease (CD) is defined as hypercortisolism secondary to an adrenocorticotropin (ACTH) secreting pituitary adenoma. It is rare in the pediatric age and early diagnosis and treatment are important to prevent long-term complications. In the diagnostic workup, bilateral inferior petrosal sinus sampling (BIPSS) of ACTH after corticotropin-releasing hormone (CRH) stimulation is the gold standard in the differential diagnosis of ACTH-dependent hypercortisolism. We re...

hrp0095p1-29 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Don’t forget the bones: incidence and risk factors of Metabolic Bone Disease in a cohort of preterm infants.

Perrone Michela , Casirati Amanda , Stagi Stefano , Paola Roggero , Mosca Fabio

Background and Aim: Metabolic Bone Disease of Prematurity(MBD) is a condition of reduced bone mineral content(BMC) compared to the expected for gestational age(GA). Preterm birth interrupts the physiological process of calcium(Ca) and phosphorus(P) deposition that occurs mostly in the 3rd-trimester of pregnancy, leading to an inadequate bone mineralization during intrauterine life(IUL). After birth, an insufficient intake of Ca and P carries on this alteration...

hrp0095p1-196 | Thyroid | ESPE2022

Diffuse Sclerosing Variant of Papillary Thyroid Cancer in a boy with Goldenhar Syndrome

Ferrari Marta , Cerutti Matteo , Ricci Franco , Stagi Stefano

A 16-year-old boy was admitted to the Emergency Department for a painless laterocervical swelling, dysphagia and an ultrasound suspect of thyroiditis. On examination he presented facial asymmetry due to maxillary bones hypoplasia and facial nerve palsy of recent onset. There was also a history of hearing loss, hypospadias, Arnold-Chiari malformation and vertebral defects according to a clinical phenotype of Goldenhar Syndrome (GHS). Blood exams showed TSH 7.46 μU/ml (0.68-4...

hrp0092p1-79 | GH and IGFs | ESPE2019

The experience of Pain in Children with Growth Hormone Deficiency and Psychosocial Correlates: Preliminary Data from a Longitudinal Prospective Study

Bettini Alessandra , Teodori Caterina , Maffei Francesca , Ciofi Daniele , Stagi Stefano

Background: Pain represents one of the most stressful experiences for children undergoing medical therapies (Kortesluoma, 2008), but is under represented in literature for what concerns pediatric endocrinology. Children consider Injections one of the most painful, frighteningand distressing procedures (Fassler, 1985). The treatment for patients with Growth Hormone Deficiency requires daily subcutaneous injection, performed by parents or patients themselves. Th...

hrp0092p3-43 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

About a Case of Neonatal Hypocalcemia

Belli Gilda , Cecconi Antonella , Romano Silvia , Ciofi Daniele , Stagi Stefano

Background: Neonatal hypocalcemia is a common disorder, occurring more often in premature, low birth weight and asphyxiated infants, as in infants born to mothers with diabetes. Nevertheless its aetiology is heterogeneous ranging from iatrogenic, idiopathic and inherited metabolic abnormalities. Among these, Autosomal Dominant Hypocalcemia (ADH) is a rare syndrome characterized by the presence of inappropriately low concentration of circulating parathyroid hor...

hrp0086p1-p807 | Syndromes: Mechanisms and Management P1 | ESPE2016

Auxological Features in Patients with Juvenile Idiopathic Arthritis Treated with Biologic Therapy Preliminary Study Data

Marino Achille , Cimaz Rolando , Giani Teresa , Simonini Gabriele , Stagi Stefano

Background: Juvenile idiopathic arthritis (JIA) is a heterogeneous group of diseases associated with an increase of inflammatory cytokines that may to influence child growth. However this is already known, to date auxological data published of JIA patients during biologic treatment are incomplete and very heterogeneous.Objective and hypotheses: To evaluate the auxological features in a selected cohort of patients with JIA treated with biologic drugs....

hrp0097p1-160 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

COX deficiency: undescribed endocrinological features in three patients with SCO1 mutation

Barbato Alessandro , Gori Giulia , Sacchini Michele , Pochiero Francesca , Stagi Stefano

Background: Cytochrome C oxidase (COX) is the fourth component of the respiratory chain. This protein is located within the internal membrane of mitochondria. COX deficiency is an inherited mitochondrial disease associated with considerable genetic and clinical variability(1). In fact, four clinical subtypes of this condition have been identified, each one with several phenotypic and genetic variants. Mitochondrial complex IV deficiency nuclear type 4 is a rar...

hrp0092p1-107 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Secular Trend of Age at Menarche and Stature in Tuscan Girls: A Retrospective Study in The Birth Cohort 1995-2003

Ferrari Vittorio , De Masi Salvatore , Ricci Franco , Ciofi Daniele , Stagi Stefano

Introduction: Developed countries have shown, among the 20th century, a time trend towards a younger age at menarche. Tanner described an anticipation of 3 months every decade. In the last two decades of twenty century we have observed an apparent stabilization of menarche age in most of Western countries.Objective: analyze average age of menarche in Tuscany girls and compare our results with those in literatu...