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...

hrp0095wg5.2 | ESPE Working Group on Paediatric and Adolescent Gynaecology (PAG) Symposium | ESPE2022

Pubertal induction of female delayed puberty: when and how

Bonomi Marco , Federici Silvia , Goggi Giovanni

Delayed puberty (DP) is defined as a retardation of sexual maturation beyond the expected age, which conventionally is between 8 and 13 years in females. Since DP due to hypogonadism requires a specific treatment, it is crucial to promptly define the underlying pathogenesis and identify a tailored program of care. Hormonal therapy is essential to promote the development of secondary sexual characteristics, bone, muscle, and social, sexual, and psychologic skills. Despite the o...

hrp0094p1-160 | Fetal Endocrinology and Multisystem Disorders B | ESPE2021

Congenital Central Hypothyroidism (CeH) due to a new variant in IGSF1 gene: clinical case of 2 siblings

Abbate Marco , Vincenzi Gaia , Stancampiano Marianna , Cangiano Biagio , Bonomi Marco , Barera Graziano , Vigone Maria Cristina ,

Congenital Central Hypothyroidism (CeH) is a rare and heterogenous disease that can be part of a combined pituitary hormone deficit (CPHD) condition. The immunoglobulin superfamily member 1 (IGSF1) is the gene more frequently involved in these inherited forms and responsible for the so called X-linked IGSF1 deficiency syndrome, characterized by an estimated incidence of 1: 100.000. The main features are CeH, delayed/disharmonic pubertal development, macroorchidism, va...

hrp0092p1-164 | Adrenals and HPA Axis (1) | ESPE2019

The Urinary Steroid Signature of Premature Adrenarche

Janner Marco , Sommer Grit , Groessl Michael , Flück Christa

Background: Adrenarche describes the developmental event of the human adrenal cortex when the zona reticularis increases the synthesis of C19 steroids (DHEA/-S) markedly at around 6-8 years of age. Early appearance of this event is called premature adrenarche (PA) and has been associated with adverse outcomes including polycystic ovary syndrome and metabolic syndrome. Recently novel biosynthetic pathways of androgen production have been revealed, but their rol...

hrp0092p2-225 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Unusual Presentation of McCune-Albright Syndrome in a 10-Year-Old Girl

Ciccone Sara , Bizzarri Carla , Cristina Matteoli Maria , Cappa Marco

Case report: A 10-year-old Italian girl presented with a painless, hard swelling in left fronto-orbital region noted two years earlier. She had no headache or other symptoms; ophthalmologic evaluation revealed no signs of intracranial hypertension; the visual field showed a reduced level of sensitivity in the upper sector of the left eye.Her previous medical history was not relevant except for a mild head injury reported two years earlier. The girl was a secon...

hrp0089p2-p324 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

Endocrine-Metabolic Characterization of Pediatric Patients with Craniopharyngioma: A Single-centre Cohort study

Pedicelli Stefania , Sette Giulia , Cianfarani Stefano , Cappa Marco

Craniopharyngioma is a rare, embryonic malformation of the sellar/parasellar region with low histological grade. In childhood-onset craniopharyngioma (CoCR), endocrine dysfunctions, severe obesity and metabolic syndrome (MetS), neurological impairment and reduced quality of life have been described as consequences of both localization and treatment. To characterize a population with CoCR and to correlate endocrine/metabolic sequelae with different surgery approach we performed...

hrp0086rfc4.7 | Pathophysiology of Obesity | ESPE2016

Prevalence and Characterization of Retinal Alterations in a Cohort of Overweight and Obese Children

Pedicelli Stefania , Bizzarri Carla , Romanzo Antonino , Cianfarani Stefano , Cappa Marco

Background: Increasing incidence of pediatric obesity has been observed worldwide. Metabolic syndrome, characterized by visceral obesity, dyslipidemia, hypertension and impaired glucose metabolism, is associated with obesity.Objective and hypotheses: To evaluate early ocular signs of hypertension by retinography in a cohort of overweight (BMI>85th)/obese (BMI>95th) children, in order to define the prevalence of retinal alterations and characteriz...

hrp0086p2-p494 | Fat Metabolism and Obesity P2 | ESPE2016

Comparison between CDC (Centers for Disease Control and Prevention) and Italian Growth Charts in the Characterization of Pediatric Obesity

Pedicelli Stefania , Bizzarri Carla , Morino Giuseppe Stefano , Cappa Marco

Background: The use of international or local growth charts for the definition of pediatric obesity is still debated. Inappropriate reference standards may lead to under/over-estimation of the prevalence and consequently of the number of patients to be included in diagnostic work-up.Objective and hypotheses: To define the differences between patients considered obese according to either CDC or Italian growth charts.Method: A single...

hrp0086p2-p937 | Thyroid P2 | ESPE2016

Starting Treatment in Congenital Hypothyroidism with Normal FT4 Levels and Thyroid Gland in situ Detected at Neonatal Screening

Paone Laura , Gubinelli Jessica , Scire Giuseppe , Ubertini Graziamaria , Cappa Marco

Background: Recently congenital hypothyroidism (CH) is increased,particularly mild forms. Current guidelines recommend initial levothyroxine (LT4) dose of 10–15 mcg/kg per day as soon as possible, if diagnosis is confirmed by serum test, even if FT4 concentration is normal and venous TSH concentration is >20 microUI/ml.Objective and hypotheses: The aim of our study was to evaluate the initial LT4 dose in newborn with congenital hypothyroidism, n...

hrp0082p1-d3-95 | Sex Development | ESPE2014

Ovarian Development and Hormonal Feedback Mechanism in a 46XX Patient with cyp19a1 Deficiency Under Low Dose Estrogen Replacement

Burckhardt Marie-Anne , Obmann Verena , Janner Marco , Mullis Primus E

Background: Ovarian and uterine development in relation to hormonal feedback mechanisms (E2, LH, FSH, and inhibin) has rarely been studied. Therefore, the age specific and longitudinally adequate replacement dose of estradiol to achieve normal maturation in terms of ovarian and uterine development during infancy, childhood and adolescence remains not well known. However, aromatase deficiency offers an excellent model to study the relevant estradiol dose needed to ac...