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...

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...

hrp0094p1-194 | Thyroid B | ESPE2021

Role of Next Generation Sequencing in the etiological diagnosis of congenital hypothyroidism with gland in situ

Di Natale Valeria , Ortolano Rita , Menabo Soara , Bettocchi Ilaria , Marzatico Alice , Scozzarella Andrea , Ferrari Simona , Pession Andrea , Cassio Alessandra ,

The pathogenetic role of genetic factors in congenital hypothyroidism (CH) is now widely known. The constant evolution of diagnostic methods in the field of medical genetics provides the opportunity to obtain an etiological diagnosis in CH patients with genetic defects in candidate genes. We performed genetic analysis by Next Generation Sequencing (NGS) of 18 candidate genes (DUOX2, DUOXA2, FOXE1, GLIS3, IGSF1, IYD, NKX2-1, NKX2-5, PAX8, SLC16A2, SLC26A4, SLC5A5, TG, THRA,...

hrp0095p2-250 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Clinical case: Diagnostic / therapeutic procedure of a 46,XY complete gonadal dysgenesis.

Balsamo Antonio , Baronio Federico , Wischmeijer Anita , Menabò Soara , Cristina Meriggiola Maria , Schwienbacher Christine , Di Natale Valeria , Cassio Alessandra

The proband is a Caucasian girl with primary amenorrhea and no breast development at the age of 16 11/12 yrs. Unrelated parents; an older brother in good health and a twin brother (GA 31 days; BW 1450g) with reported agenesis of the corpus callosum and socio-emotional behavioral problems. The mother (menarche 14 yrs. and bicornuate uterus) presented four early spontaneous abortions and one stillborn fetus (46, XX) in the 6th month of pregnancy; remaining negative family histor...