ESPE Abstracts

Introduction: Although there are several studies on the incidence of congenital hypothyroidism (CH), there are few data showing incidence and evolution of CH detected by the second newborn screening (NBS).Objectives: To assess the incidence of CH in Lombardia region and the percentage of patients identified by the 2ndNBS. To describe the clinical features and evolution of CH patients detected by the 2nd</...

Background: CYP11A1 gene encodes the cholesterol side-chain cleavage enzyme, P450scc, which plays a key role in the initial steps of steroidogenesis. CYP11A1 insufficiency lead to a variable phenotype ranging from severe early onset primary adrenal insufficiency (PAI) in the neonatal period,with 46,XY DSD; to late-onset PAI with normal genitalia.Objective: Detail the phenotype of a family sharing newly described...

Introduction: Hyperthyrotropinemia is common in patients with obesity and has been hypothesized that high TSH could be associated with an adverse metabolic profile. Few studies have been performed in pediatric population and the results are controversial.Objective: Aim of the study was to evaluate the association between TSH and metabolic syndrome (MS) in a large group of obese children and adolescents.<p class="abst...

Background: Papillary thyroid cancer has been described in three patients with Turner syndrome (TS) who received growth hormone therapy (Cabanas P, 2005; Bautembach-Minkowska J, 2018). We are presenting a case of papillary thyroid cancer in a girl with a late-diagnosed Turner syndrome who has not received any hormonal therapy up to 17 years.Clinical case: A girl was diagnosed with TS syndrome (karyotype 45XO/46X i(X)q) a...

Introduction: CNS tumors may cause precocious puberty (PP): in most cases gonadotropin-dependent PP, but in boys ß-HCG- secreting tumors may cause gonadotropin-independent (GIPP) with extremely high testosterone secretion due to Leidig cell stimulation by ß-HCG. Rapid bone maturation in such cases can lead to growth plate closure and poor final height prognosis. Aromatase inhibitor (AI) are administered in children with McCune-Olbright disease, famil...

Background: MURCS association is a rare developmental disorder that primarily affects the reproductive and urinary systems. MURCS is an acronym which stands for (MU)llerian, (R)enal, (C)ervicothoracic (S)omite abnormalities. Males and females with MURCS association often have short stature and might suffer from hearing loss. MURCS anomalies are present at birth but may not be noticed until puberty, and then present as primary amenorrhea, or discovered incident...

Background: Hormone-secreting pituitary adenomas in children and adolescents are rare.Methods: We report clinical course, management and outcome of 6 cases diagnoses in 2013-2019.Results: Patients (3M, 3F), aged 9,5 – 16,5 years at referral. In them, 3 ACTH-secreting adenomas (ACTHA) and 3 prolactinomas (PROLA) were recognized. The family history for endocrine tumors was negat...

Objectives: Forkhead box A2 (Foxa2) is a transcription factor that plays a key role in foregut, pancreatic and central nervous system development. Here, we describe a 7 years old boy whose phenotype is consistent with FOXA2 defect.Case: A 3 months old boy was referred for recurrent hypoglycemic events. He was born to unrelated parents at term with a birth weight of 3690 gr. At 6 hours of life he had severe hypoglycemia (...

Background: Subclinical hypothyroidism is defined as elevated TSH levels while T4 or FT4 levels are normal. Elevated TSH levels are linked with obesity in adults. In a recent meta-analysis in Iran, 6.1% of children below 18 had obesity. Due to the low number of studies on the subject in children we, designed the study to assess the relation between BMI Z-score and TSH levels in children and adolescence.Method: This c...

The patient was a Chinese girl who born 40 weeks of gestation by caesarean section. Her birth weight was 2900g (10th–25th centile), birth length was 48cm (10th– 25thcentile). Both parents are in good health. The family history was unremarkable. She was first admitted to our hospital because of seizure afebrile at 6 months old. She presented discontinues generalized tonic-clonic seizures for 3~5minutes several times, it seemed that these onsets were not associate...