hrp0092p2-227 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Screening of Central Precocious Puberty (CPP) in Females: Efficacy of Morning Unstimulated Luteinizing Hormone (mLH) Levels

Baronio Federico , Ortolano Rita , Tonti Giacomo , Vestrucci Benedetta , Cassio Alessandra

Introduction: The gonadotropin releasing hormone stimulation test (GnRHST) is commonly used to screen CPP. Some recent studies reported that morning unstimulated luteinizing hormone levels may be sufficient to discriminate pubertal from prepubertal children. The aim of this study is to evaluate the clinical efficacy of mLH to screen CPP in femalesPatients and Methods: We retrospectively studied the clinical and hormonal ...

hrp0095p1-406 | Adrenals and HPA Axis | ESPE2022

Salt-wasting in newborns due to adrenal dysfunctions other than 21 OH Congenital adrenal hyperplasia (CAH) : a single center experience

Baronio Federico , Ferrari Vittorio , Maltoni Giulio , Alqaisi Randa , Cassio Alessandra

Introduction: Salt wasting is a potentially life-threatening condition in the newborn period. Other than 21 OH-CAH other rarer adrenal causes should be considered in the differential diagnosisObjective: To report the laboratory, clinical features, management and genotype of a series of consecutive patients who showed up at our Center for a salt wasting syndrome in the last 32 years, excluding patients with 21 OH CAH....

hrp0095p1-424 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Therapeutic Approach to Primary Hyperparathyroidism: A Case-Report from One Pediatric Endocrinology Center

Di Natale Valeria , Assirelli Valentina , Zucchini Stefano , Cassio Alessandra

Primary hyperparathyroidism is a condition characterized by one or more hyperfunctioning parathyroids leading to hypercalcemia and inappropriately normal or elevated levels of parathyroid hormone (PTH). Clinically it can occur asymptomatically or manifests with osteopenia, increased risk of pathological fractures, nephrolithiasis, gastrointestinal symptoms (vomiting, constipation, abdominal pain) or asthenia. We report the case of A.L.M, a 15-year-old female who went to the Em...

hrp0095p1-341 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Proposal of a diagnostic flow-chart for the diagnosis of central precocious puberty (CPP) in females

Baronio Federico , Ortolano Rita , Candela Egidio , Bernardini Luca , Cassio Alessandra

Introduction: in females with precocious thelarche (PT) (< 8 years), elevation of morning luteinizing hormone levels (mLH) may be indicative of pubertal activation of the pituitary gonadal axis. However, this approach could not be satisfactory in real life management of PT due to the risk of reduced specificity and sensitivity of the mLH thresholds. We propose a diagnostic flow-chart based on basal and stimulated gonadotrophins integrated with bone age and ...

hrp0092p2-92 | Diabetes and Insulin | ESPE2019

An Impaired Lipid Profile is a Sign of Reduced Insulin Sensitivity in Children and Adolescents at Type 1 Diabetes Onset

Maltoni Giulio , Zucchini Stefano , Zioutas Maximiliano , Di Natale Valeria , Cassio Alessandra

At type 1 diabetes (T1D) onset, international guidelines reccommend a starting subcutaneous insulin dose widely ranging from 0,5 to 1 u/kg/day. In fact, many factors such as age, pubertal stage and the severity of ketoacidosis, may influence insulin sensitivity. However, it is a common experience that many subjects may require a higher insulin daily dose than expected, with the subsequent need of longer time to achieve stable blood glucose values and the extension of days of h...

hrp0089p3-p267 | Multisystem Endocrine Disorders P3 | ESPE2018

Unusual Clinical Presentation of Autoimmune Polyendocrinopathy Type 1

Baronio Federico , Ortolano Rita , Ferrari Simona , Cassio Alessandra , Maltoni Giulio , Tonti Giacomo , Balsamo Antonio

Background: Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) or autoimmune polyendocrinopathy type 1 (APS-1) is a rare monogenic autosomal recessive disease due to pathogenic variants in the AIRE gene. APECED usually begins during early childhood with chronic mucocutaneous candidiasis (CMC), followed by hypopathyroidism (HP) and Addison’s disease (AD); however, other endocrine and non-endocrine components may occur with a different prevalen...

hrp0086p1-p364 | Gonads &amp; DSD P1 | ESPE2016

Genotyping Patients with Differences of Sex Development: 25 Years of Investigation of an Italian Population of 308 Cases (194 46,XY and 114 46,XX)

Baldazzi Lilia , Menabo Soara , Baronio Federico , Ortolano Rita , Cassio Alessandra , Mazzanti Laura , Balsamo Antonio

Background: Differences of sex development (DSDs) (conditions with atypical development of chromosomal, gonadal or anatomic sex) are classified into three groups: sex chromosome DSD, 46,XYDSD and 46,XX DSD. Around 1 newborn in 5000 presents ambiguous genitalia with a major challenge for male or female assignment. The identification of a genetic cause can contribute to a correct diagnosis and to optimize both management and genetic counselling.<p class="abs...

hrp0084p3-631 | Autoimmune | ESPE2015

Oocyte Cryopreservation in a Patient with Premature Ovarian Failure due to Autoimmune Polyendocrine Syndrome Type 2

Balsamo Claudia , Porcu Eleonora , Baronio Federico , Forchielli Luisa , Bazzocchi Antonia , Mazzanti Laura , Cassio Alessandra

Background: Autoimmune polyendocrine syndrome type 2 (APS2) is a complex disorder characterised by the obligatory occurrence of Addison disease in combination with thyroid autoimmune disorder and/or type 1 diabetes. APS 2 is the most common autoimmune polyendocrine syndrome and is primarily manifest in adult age. Premature ovarian failure (POF) is defined as sustained amenorrhea before the age of 40 years, FSH levels higher than 40 UI/l and hypoestrogenism associated with infe...

hrp0095p1-200 | Thyroid | ESPE2022

Severe and Non Severe Forms of Autoimmune Hypothyroidism in Childhood: A Retrospective Analysis of 256 Cases

Maltoni Giulio , Vincenzi Gaia , Scozzarella Andrea , Tarantola Giulia , Cristina Vigone Maria , Cassio Alessandra

Introduction: Hashimoto’s thyroiditis (HT) is one of the most common autoimmune diseases in childhood. Despite its frequency, there are still controversies concerning the spontaneous evolution and presentation in childhood. Aim and methods: this is a retrospective study aiming to evaluate clinical and hormonal features at diagnosis and auxological parameters after 3 years in subjects with Severe Autoimmune Hypothyroidism (SAH). We defined severe hypothyr...

hrp0092p1-111 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

PROKR2 in Girls with Idiopathic Central Precocious Puberty

Grandone Anna , Luongo Caterina , Cassio Alessandra , Salerno Mariacarolina , Tornese Gianluca , Festa Adalgisa , del Giudice Emanuele Miraglia , Cirillo Grazia

Introduction: PROKR2 is a 384-amino acid G-protein-coupled receptors (GPCR) that regulates GnRH secretion in the hypothalamus. PROKR2 mutations have been described as cause of a certain percentage of of hypogonadotropic hypogonadism and Kallmann syndrome.In 2017 a heterozygous frameshift gain of function mutation of PROKR2 was identified in a 3.5-year-old girl with central precocious puberty (CPP).The aim of our st...