ESPE Abstracts

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...

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 ...

Background: Girls with Turner Syndrome (TS) are at an increased risk of primary ovarian failure. Oestrogen replacement is commenced at around the age of 12 years, in girls who do not enter puberty spontaneously, with incremental changes to the dose over the next 3 years until adult replacement doses are achieved. We have previously shown good correlation between serum and urinary LH (uLH) and FSH (uFSH) in children being assessed for disorders of puberty.<...

Background: Pain represents one of the most stressful experiences for children undergoing medical therapies (Kortesluoma, 2008), but is under represented in literature for what concerns pediatric endocrinology. Children consider Injections one of the most painful, frighteningand distressing procedures (Fassler, 1985). The treatment for patients with Growth Hormone Deficiency requires daily subcutaneous injection, performed by parents or patients themselves. Th...

Autoimmune polyglandular syndrome type 1 (APS-1) is also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). Clinical manifestations are widely variable. It is an autoimmune disease which is characterized by the triad hypoparathyroidism, Addison disease, and chronic mucocutaneous candidiasis. However, several other autoimmune disorders, not necessarily endocrinological, differing in number and severity, may be present. APS1 is mostly caused by mut...

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 ...

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...

Introduction: An association between the ketogenic diet (KD) and hypercalcaemia has been suggested in one case series of three children1, where hypercalcaemia occurred within 12 months of starting KD. We describe a case where severe hypercalcaemia occurs after four years on KD.Case: A 5.5-year-old boy is referred for hypercalcaemia in context of early sepsis and a background of Dynamin-1 gene mutation causing ...

Background: Several studies have described ethnic differences in HbA1c. Non-Caucasian patients have been found to have an higher HbA1c than the Caucasian ones. These differences have often been attributed to disparities in access to medical care or quality of the care.Objective and hypotheses: Differences in Hba1c among the ethnicities could be related not only to mean glycaemia. The aim of our study was to observe if, at the same level of mean glucose, ...

Background: Cushing’s disease, due to ACTH-secreting pituitary adenomas, is rare in the pediatric age (0.2–0.5/ million people per year), although accounts for 75–80% of Cushing syndrome in childhood compared to 49–71% in adulthood. We report clinical presentation, diagnostic workup and treatment of a new case with major therapeutics problems.Case report: A 15-year-old girl was referred to our clinic because of secondary amenorrhea, a...