ESPE Abstracts

The transition phase is the period from the end of puberty until achievement of full adult maturity. We report the results from 45 patients with pituitary deficiency (15-24.9years), 28 (16males) with congenital insufficiency (G1) and 17 (10males) with acquired disease (G2), evaluated at the end of GH therapy. All cases had confirmed GH deficiency; 89.2 % of cases from G1 had multiple pituitary deficiencies (TSH 23/28, LH/FSH 19/28, ACTH 15/28 and Prolactin 3/28), 94.1 &#37...

Background: Adrenocortical Tumors (ACT) is a rare endocrine malignancy with heterogeneous presentation.Aim: To evaluate the clinical, biochemical and pathologic characteristics of pediatric ACT in a single tertiary center.Subjects and methods: Review of 28 medical records with childhood ACT (chronological age (CA) <18 years (y) treated between 1987 and 2017. Clinical, biochemical, and histological features (Wieneke index), stag...

Introduction: The diagnosis of Congenital Adrenal Hyperplasia (CAH) is a challenge due to the complexity of its pathophysiology and the variety of clinical manifestations. Female newborns (NB) with classical forms present virilization of the external genitalia while in boys it is usually normal. Salt-losers boys and girls are highly susceptible to develop acute adrenal insufficiency and death in the first weeks of life; for these reasons, Neonatal Screening (NS) programs have ...

Introduction: Thyroid cancer is the most common pediatric endocrine cancer, constituting 0.5%–3% of all childhood malignancies. Cancer can be present in multinodular thyroid disease but the majority of malignant nodules are solitary. Thyroid malignancies in children are almost always well differentiated.Aim: Prevalence, clinical features, pathological profile and therapy of thyroid cancer in children.Patients and method: Retro...

Background: Disorders of sex development (DSD) are those congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. 45,X/46,XY mosaicism results in a large clinical spectrum of DSD including from female patients with Turner’s syndrome to normal appearing males.Objective and hypotheses: The main aim of this study is to review the clinical and gonad histological findings in a cohort of chromosomal DSD patients f...

Background: Mammary duct ectasia is a bening breast condition which affects primarily middle-aged to elderly women. However, it can occurs wherever there is breast ductal epithelium.Case presentation: A 9-years-old boy was referred to the regional paediatric endocrine clinic from the General Practicioner due to gynaecomastia. Pubic hair development started at the age of 8. Personal and family history were unremarkable except for a history of coping with ...

Iodide (I−) transport defect (ITD) is an autosomal recessive disorder caused by the inability of the thyroid follicular cell to actively accumulate iodide. Active I− accumulation is mediated by the Na+/I− symporter (NIS), an integral plasma membrane glycoprotein located on the basolateral surface of thyrocytes. The diagnostic criteria for ITD include a variable degree of hypothyroidism and goiter, low to absent thyr...

Introduction: Complete ALS deficiency (ALS-D), caused by inactivating mutations in both IGFALS gene alleles, presents severe IGF1 and IGFBP3 deficiencies associated to moderate growth retardation.Aim: To characterize the molecular defect in a family where the index case and his father presented short stature and IGF1 and IGFBP3 deficiencies.Methods: IGF1, IGFBP3, and GH serum levels were determined by CLIA, ALS by ELISA an...

Background: An important issue in the management of congenital hypothyroidism (CH) is the best initial dose of levothyroxine (L-T4) in order to achieve optimal neurocognitive outcomes. Both European and American guidelines suggest an initial dose of 10–15 μg/kg per die but trials on long-term effects of different doses within this range are lacking.Objective and hypotheses: This was a multicenter randomized trial to ev...

Background: Familiar isolated pituitary adenomas (FIPA) encompasses the familiar occurrence of isolated pituitary adenomas outside the setting of syndromic conditions such as MEN1 and Carney’s complex, and comprise about 2–3% of pituitary adenomas. About 20% of FIPA have mutations in the aryl hydrocarbon receptor interacting protein gene (AIP), usually associated with a worse outcome.Objective and hypotheses: Evaluate the presence of AIP gene m...