hrp0086p2-p84 | Adrenal P2 | ESPE2016

Hyperreninemic Hypoaldosteronism: Clinical and Genetic Features in Pediatric Patients

Capirchio Laura , Seminara Salvatore , Scalini Perla , de Martino Maurizio , Stagi Stefano

Background: Isolated hyperreninemic hypoaldosteronism due to aldosterone synthase deficiency is a rare autosomal recessive disorder linked to aldosterone biosynthesis defect (involving CYP11B2 gene). Its clinical presentation varies with age: during the first weeks of life it usually presents with salt-wasting syndrome (with severe hyponatremia, hyperkalemia, metabolic acidosis, vomiting, signs of dehydration) while in children it is usually characterized by failure to thrive,...

hrp0086p2-p149 | Bone & 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...

hrp0086p2-p396 | Gonads & DSD P2 | ESPE2016

Hypogonadotropic Hypogonadism in a Girl with 2p11.2–2q12.1 Duplication

Bianconi Martina , Scalini Perla , Maccora Ilaria , de Martino Maurizio , Megna Paolo , Stagi Stefano

Background: Patients with chromosome 2 pericentromeric duplication are rarely reported in literature.Objective and hypotheses: To describe a young girl with a congenital malformations syndrome, hypogonadotropic hypogonadism and impaired bone quality associated with a chromosome 2 pericentromeric duplication.Results: The proposita was born at 37th weeks of gestation from a twin pregnancy with a cesarean delivery presenting low birth...

hrp0086p2-p406 | Gonads & DSD P2 | ESPE2016

The Experience of GAIA (Abuse Childhood and Adolescence Group) – AOU Meyer

Losi Stefania , Anzilotti Giulia , Scalini Perla , De Martino Maurizio , Stagi Stefano

Background: GAIA is a health service of Meyer Children Hospital composed of a multidisciplinary team specialized in the management of children victims of child abuse. Sexual abuse occurs when a child is engaged in sexual activities that cannot comprehend, for which the child is developmentally unprepared and cannot give consent, and/or that violate the law or social taboos of society. The sexual activities may include all forms of oral-genital, genital, or anal contact by or t...

hrp0086p1-p461 | Fat Metabolism and Obesity P1 | ESPE2016

Adiponectin and IL-6 in Simple Childhood Obesity with and without Hepatic Steatosis

Stagi Stefano , Nanni Laura , Scalini Perla , Luisa Vetrano Maria , Mirri Silvia , de Martino Maurizio , Seminara Salvatore

Background: Non-alcoholic fatty liver disease (NAFLD) represents a spectrum of clinicopathological conditions frequently discovered in obese patients and characterized by multifactorial pathogenesis. Hypoadiponectinaemia and higher interleukin (IL)-6 levels has been related to NAFLD, even if some contradictory findings have emphasized our incomplete understanding of the role of the cytokines in NAFLD.Objective and hypotheses: To investigate the relations...

hrp0086p2-p663 | Growth P2 | ESPE2016

A Case of GH Deficiency in a Female with 3M Syndrome

Bortone Barbara , Scalini Perla , de Martino Maurizio , Giglio Sabrina , Lapi Elisabetta , della Monica Matteo , Stagi Stefano

Background: 3-M syndrome is an autosomal recessive primordial growth disorder characterized by severe prenatal and postnatal growth retardation, normal mental development, unusual facial features and skeletal abnormalities. Mutations in the CUL7, OBSL1 and CCDC8 genes are responsible for this syndrome. In literature a modest response to GH treatment in 3M children is reported without a significant improvement in the final height, suggesting a picture...

hrp0086p2-p779 | Pituitary and Neuroendocrinology P2 | ESPE2016

Central Precocious Puberty in a Female with Gonadal Dysgenesis and Bilateral Gonadoblastoma

Megna Paolo , Scalini Perla , Capirchio Laura , De Martino Maurizio , Losi Stefania , Stagi Stefano

Background: Gonadal dysgenesis may be rarely associated with precocious puberty (PP) and development of gonadoblastoma. In these patients cases of peripheral PP have been reported. On the contrary, a central PP has been very rarely described.Objective and hypotheses: To describe a female with central PP associated with a bilateral gonadoblastoma.Results: A 8 year and 5 month old phenotypically female child, presenting suspected PP ...

hrp0086p2-p794 | Pituitary and Neuroendocrinology P2 | ESPE2016

An Unusual Association between Empty Sella and Central Precocious Puberty

Anzilotti Giulia , Losi Stefania , Bencini Erica , Scalini Perla , de Martino Maurizio , Stagi Stefano

Background: Empty sella refers to the radiographic appearance of an enlarged or deformed sella turcica and it is considered a rare occurrence in childhood. Many reports have suggested that it is associated with hypothalamic-pituitary dysfunction, with a high prevalence of growth hormone deficiency, as well as multiple pituitary hormone deficiency, idiopathic delayed puberty and isolated diabetes insipidus.Objective and hypotheses: We describe the case of...

hrp0086p2-p146 | Bone & Mineral Metabolism P2 | ESPE2016

Bone Mineral Status and Metabolism in Patients with Williams-Beuren Syndrome

Stagi Stefano , Scalini Perla , Chiarelli Francesco , Verrotti Alberto , Giglio Sabrina , Ricci Franco , Lapi Elisabetta , Romano Silvia , Martino Maurizio de

Background: Despite the multiple endocrine, cardiovascular, and gastroenterologic problems of patients with Williams-Beuren Syndrome (WBS), Studies considering metabolism and bone quality in WBS are almost entirely absent from the literature.Objective and hypotheses: We evaluate bone mineral status and metabolism in a cohort of patients with WBS.Method: Thirty-one children (15 females, 16 male...

hrp0086p2-p649 | Growth P2 | ESPE2016

A Case of Hypopituitarism in a Patient with Cantù Syndrome

Azzali Annachiara , La Spina Luisa , Gioe Daniela , Scalini Perla , Sandini Elena , Farri Martina , de Martino Maurizio , Stagi Stefano

Background: Cantù syndrome is a rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. Other findings described are vascular abnormalities, pulmonary hypertension, generalized edema, mild learning disability and behavioral problems. Cantù syndrome is related to an heterozygous pathogenic variant in ABCC9 or KCNJ8, which can be inherited in an autosominal dominant manner or d...