hrp0086p1-p734 | Pituitary and Neuroendocrinology P1 | ESPE2016

Pseudopuberty in a Young Girl with Adrenocortical Carcinoma During Mitotane Therapy

Marini Romana , De Pasquale Debora , Bizzarri Carla , Santoro Elisa , Cozza Raffaele , Cappa Marco

Background: The Adrenocortical Neoplasm (ACN) is a rare condition in childhood (0,3 cases/1000000). In paediatric age, ACN at stage 1 is treated by complete adrenalectomy, while at stages 2 and 3 surgery is followed by adjuvant treatment with Mitotane (M). Chemotherapy is required in metastatic cases (stage 4).Objective and hypotheses: M is an adrenal cytotoxic agent which has both adrenolytic action on ACN cells and inhibition on steroid hormone synthes...

hrp0086p1-p816 | Syndromes: Mechanisms and Management P1 | ESPE2016

A Case of Patient with Rubinstein-Taybi Syndrome Type 2 with Complete Deletion of EP300 Gene and Complex Phenotype

Santoro Elisa , Marini Romana , Novelli Antonio , Alesi Viola , Dentici Maria Lisa , Cappa Marco

Background: Rubinstein-Taybi syndrome (RSTS) is a rare genetic syndrome characterized by postnatal growth retardation, intellectual disability, microcephaly, peculiar facial features, broad thumbs and big toes and other organs malformations. There are two forms: RSTS type 1 characterized by CREBBP gene mutations (16p13.3); RSTS type 2 dues to mutations/ deletions in EP300 gene (22q13.2). The type 2 is associated with mild phenotype with possible absence of the typical diagnost...

hrp0082p2-d3-501 | Perinatal and Neonatal Endocrinology | ESPE2014

Kabuki 47,XXY Syndrome: a Case Report

Pedicelli Stefania , Marini Romana , Ciccone Sara , Cambiaso Paola , Digilio Maria Cristina , Bizzarri Carla , Cappa Marco

Background: Klinefelter syndrome is the most common sex chromosome disorder (prevalence: 1/600 newborn males), characterized by at least one extra X chromosome. If the diagnosis is not made prenatally, the disorder can remain unknown until pubertal or adult age. Kabuki syndrome, instead, is a rare, dysmorphic syndrome (1:32 000 newborn) characterized by distinctive facial features, multiple anomalies, and mental retardation. About 50–80% of cases are due to de novo</e...

hrp0082p2-d2-521 | Pituitary (1) | ESPE2014

Association of Pituicytoma and Cushing’s Disease: a Rare Pediatric Case

Ciccone Sara , Cambiaso Paola , Longo Daniela , Marini Romana , Pedicelli Stefania , Deodati Annalisa , Galassi Stefania , Cappa Marco

Background: Pituicytoma is a very low-grade glioma that originate in the neurohypophisis and infundibulum.Objective and hypotheses: Describe diagnosis and treatment of associated pituicytoma and ACTH-secreting adenoma in a 6-year-old girl.Method: Case report and literature review.Results: We report the case of a 6-year-old presented with growth failure and associated weight gain, premature pubarche, and hyper...

hrp0082p3-d2-737 | Diabetes (3) | ESPE2014

IGF1 Levels in Children with Type 1 Diabetes are Primarily Related to Glycemic Control and Residual β Cell Mass, and not Affected by Different Modalities of Insulin Therapy

Bizzarri Carla , Benevento Danila , Patera Ippolita Patrizia , Marini Romana , Bongiovanni Marzia , Anziano Marco , Cappa Marco

Background: Impaired linear growth and low IGF1 levels, strictly related to poor glycemic control have been reported in children with type 1 diabetes (T1DM).Objective and hypotheses: We studied growth and growth factors in 91 T1DM young patients, 54 males (age: 11.73±3 years, disease duration: 5.2±2.9 years). All subjects were on intensive insulin therapy: 72 children by multiple injection therapy (MI), 19 children by continuous subcutaneous in...

hrp0084p3-721 | Diabetes | ESPE2015

GAD Antibodies Negative Type 1 Diabetes and Dravet Syndrome

Ciccone Sara , Marini Romana , Fusco Lucia , Terracciano Alessandra , Schiaffini Riccardo , Cappa Marco

Background: An association between type 1 diabetes mellitus (T1DM) and idiopathic generalized epilepsy is reported. Some authors suggest an autoimmune mechanism mediated by antibodies to glutamic-acid-decarboxylase (GAD), that is an enzyme involved in the synthesis of the neurotransmitter GABA. Dravet syndrome (DS) is a rare, severe epilepsy disorder characterized by febrile hemiclonic seizures or generalized status epilepticus starting at 6 months of age. In classical DS, a d...

hrp0095p2-287 | Thyroid | ESPE2022

Prader Willi Syndrome with Cribiform Papillary Thyroid Carcinoma. A case to share

López Avellaneda Carina , Guntsche Zelmira , José Guillamondegui María , Oliva Julio , Breyer Federico

Cribiform Papillary Thyroid Carcinoma has low prevalence. Our objective is to present a case and to emphasize future implications. We present a female 14.9 years old patient with PWS (del 15 q11-13 by methylation test) with a history of asthma, hepatic steatosis, increased Waist-to-Height ratio, HbA1c 5.86 % and C-Peptide 3.64 ng/mL. She had primary hypotiroidism since 7 years old treated with 25 mg/ day of levothyroxine and impaired fasting glucose since 10 years old with a B...

hrp0089p1-p239 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

Sustainability of Estradiol Drug Concentrations in Cut Matrix Patches; A Study of Different Brands with Potential Use for Pubertal Induction

Ankarberg-Lindgren Carina , Gawlik Aneta , Kristrom Berit , Mazzanti Laura , Sas Theo CJ

Background: The estimated estradiol (E2) dose required for pubertal induction in hypogonadal girls is about 1/10 of the adult dose. Previous studies have shown that it is possible to provide an individualized and physiological dose for pubertal induction by cutting the patch into smaller pieces. However, the manufacturers do not guarantee stability or utility of cut E2 patches, primarily designed for postmenopausal women, and have no interest in that eval...

hrp0084p1-137 | Turner &amp; Puberty | ESPE2015

Normalization of Puberty and Adult Height in Girls with Turner Syndrome, Randomised Trials vs Age and Dose at GH-Start

Kristrom Berit , Ankarberg-Lindgren Carina , Barrenas Marie-Louise , Nilsson Karlolof , Albertsson-Wikland Kerstin

Background: Early TS diagnosis permits early GH start and estradiol (E2) supplementation approaching adult height (AH) at normal age and within a normal range. However, higher age at diagnosis is still a challenge.Objective and hypotheses: The hypothesis from our long-term trials will result in knowledge for personalized treatment in order to obtain a psychological acceptable age at onset of puberty and still an attained AH within normal range...

hrp0084p3-586 | Adrenals | ESPE2015

Longitudinal Changes During Prepubertal Years in Visceral Fat and Steroid Hormones – SGA vs AGA Children

Ankarberg-Lindgren Carina , Andersson Mats X , Karlsson Ann-Katrine , Dahlgren Jovanna

Background: Small for gestational age (SGA) children have reportedly increased DHEAS levels during prepubertal years. However, steroid hormones have not been followed longitudinally in a healthy population compared to body composition.Aims and objectives: To evaluate steroid hormone patterns in prepubertal children correlated to visceral fat measures.Methods: Body composition was investigated with magnetic resonance (MR) of truncal...