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...

hrp0095p2-182 | Growth and Syndromes | ESPE2022

Persistent leukocytosis in a Noonan syndrome-neurofibromatosis type 1 patient treated with recombinant human growth hormone

Deyanova Yana , Iotova Violeta , Hristozova Hristina , Kaleva Valeria

Introduction: Noonan syndrome-Neurofibromatosis type 1 (NSNF) is a genetic disorder characterized with clinical features of both Noonan syndrome (NS) and neurofibromatosis type 1 (NF1). Recombinant human growth hormone (rhGH) has been widely used in NS patients as well as in some patients with NF1 but there are only a few published cases of rhGH treated NSNF patients. We report a patient with NSNF with short stature who started rhGH treatment with subsequent p...

hrp0095p2-187 | Growth and Syndromes | ESPE2022

Combination Down / Klinefelter syndrome - a Clinical Case

Koleva Reni , Popov Borislav , Nadegda Dimitrova , Ana Grigorova , Valeria Petrova

Introduction: The combination Down/Klinefelter syndrome was first described in 1959 by Ford. Its frequency is 0.4-0.9 / 10,000 newborn boys.Case presentation: A boy aged 5 y 4 m, born from a 2nd high-risk pregnancy (mother aged 44 with 1st pregnancy resulting in spontaneous abortion at 12 gestational weeks and with twice-established anemic syndrome) with (+) biochemical screening for Down syndrome. Birth was given via pl...

hrp0092p3-5 | Adrenals and HPA Axis | ESPE2019

Can Early Prenatal Prednisone Treatment Reduce Virilization of CAH Female Newborn?

Sauna Alessandra , Timpanaro Tiziana , Panebianco Valeria , Caruso-Nicoletti Manuela

A female second born of unrelated parents, at fourth pregnancy, born by vaginal delivery at 39 weeks of gestational age, weight 3145 g (-0.45 SDS), length 50 cm (0.12 SDS), head circumference 33 cm (-0.82 SDS), presented with DSD. The mother affected by hypothyroidism and autoimmune hepatitis, during the whole pregnancy was treated with levothyroxine and prednisone at the dose of 5 mg/day. At birth mild ambiguous genitalia (Prader stages I-II) were noticed and the baby was adm...

hrp0089p1-p001 | Adrenals and HPA Axis P1 | ESPE2018

Evaluation of Long Term Metabolic Effects After Prenatal Dexamethasone Treatment in the Context of CAH – the Swedish Cohort

Wallensteen Lena , Karlsson Leif , Messina Valeria , Nordenstrom Anna , Lajic Svetlana

Background: Prenatal dexamethasone (DEX) treatment is in many countries offered to the pregnant woman, at risk of having a child with classic congenital adrenal hyperplasia (CAH), to reduce virilization in an affected female fetus. The treatment is effective in reducing virilization but may give long lasting effects on somatic and cognitive health. Here, we explore the potential effect on metabolism in children and adults not having CAH and exposed to DEX during the first trim...

hrp0089p1-p003 | Adrenals and HPA Axis P1 | ESPE2018

Cognition in Children with Congenital Adrenal Hyperplasia

Messina Valeria , Karlsson Leif , Hirvikoski Tatja , Nordenstrom Anna , Lajic Svetlana

Background: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive disorders, affecting around 1/10 000 newborns worldwide. Postnatally, patients with classic CAH are treated with life-long glucocorticoid (GC) replacement therapy, such as hydrocortisone or prednisolone, and in the more severe cases also with mineralocorticoids. A negative impact of GCs on human cognition such as memory deficits have been reported bot...

hrp0084p2-328 | Fat | ESPE2015

miR-122 and Non-Alcoholic Fatty Liver Disease in Prepubertal Obese Children

Inzaghi Elena , Brandt Stephanie , Roos Julian , Cianfarani Stefano , Nobili Valerio , Colajacomo Mauro , Battelino Tadej , Primoz Kotnik , Wabitsch Martin , Fischer-Posovszky Pamela

Background: The incidence of non-alcoholic fatty liver disease (NAFLD) is dramatically increasing among children worldwide. The gold standard for diagnosis is the liver biopsy. Reliable serum markers are lacking. Recently, circulating miRNAs have been studied as biomarkers of disease progression. Specifically, miR-122 was proposed as predictive marker for liver disease in adults, while no data are available for children.Objective and hypotheses: To inves...

hrp0095fc9.2 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Can pre-treatment BMI influence long-term anthropometric and metabolic outcomes in girls with idiopathic central precocious puberty treated with GnRHa?

Bruzzi Patrizia , Sandoni Marcello , Valeri Lara , Trevisani Viola , Dalla Porta Francesca , Filomena Madeo Simona , Lucaccioni Laura , Predieri Barbara , Iughetti Lorenzo

Background: Gonadotropin releasing hormone analogs (GnRHa) are effective in improving adult height in children with precocious onset of puberty, rapid progression, and good growth potential. In last years, however, some transient metabolic complications have been described during the treatment without the reassurance of long-term data yet. The aim of our study is to clarify if body mass index (BMI) at diagnosis of idiopathic central precocious puberty (iCPP) c...

hrp0095p1-434 | Diabetes and Insulin | ESPE2022

Role of glucose variability on linear growth in children with Type 1 Diabetes

Castorani Valeria , Blasetti Annalisa , Polidori Nella , Mastromauro Concetta , Mascioli Ilaria , Chiarelli Francesco , Giannini Cosimo

Objective: Linear growth is impaired in children with type 1 diabetes (T1D) and poor metabolic control. A good metabolic control is a key therapeutic goal to prevent vascular complications but also for ensuring an appropriate anthropometric development during childhood. In this study, we aimed to identify and characterize the effects of glycemic variability on linear growth in children with T1D.Methods: Data from 144 pre...

hrp0095p1-587 | Thyroid | ESPE2022

Sensitivity to Thyroid Hormones and Metabolic Syndrome in Pediatric Patients with Neuromotor Disability

Calcaterra Valeria , Biganzoli Giacomo , Ferraro Simona , Mari Alessandra , Rossi Virginia , Biganzoli Elia , Zuccotti Gianvincenzo

Introduction: Thyroid hormones (THs) play a crucial role in growth, brain development and function and metabolic homeostasis. The sensitivity to TH indices seems to be associated with metabolic syndrome (MS), prediabetes and diabetes in adults. We evaluated the sensitivity to TH indices in a pediatric population with neuromotor disability in relationship with the MS presence, using a multivariate analysis (MVA).Patients and Metho...