ESPE Abstracts

Normocalcemic primary hyperparathyroidism (NPHPT) has been recognized as a variant of primary hyperparathyroidism (PHPT) and it is characterized by elevated PTH with persistently normal concentrations of albumin-adjusted total and ionized calcium. It is related to increased risk in development of osteopenia/osteoporosis as well of parathyroid adenoma and hypercalcemia/hypercalciuria. In order to identify biochemical disorders of PTH in normocalcemic children we performed in al...

Patients: A 2-year old girl was referred due to glucosuria 1874 mg/dl. Fasting blood sugar was 71 mg/dl and HbA1c 4.8%. Examination of her growth charts revealed mild failure to thrive, since 15 months of age, as far as weight gain and height velocity. We used Flash technology (FreeStyle Libre) to identify hypoglycemic episodes. In 9 days, 8% of the time was < 70 mg/dl, with 11 hypoglycemic events: mean duration 94 min, lowest 52 mg/dl.<p class...

Background: Third generation aromatase inhibitors (AI) have never been used as monotherapy to increase predicted adult height (PAH) in girls. Our previously published GAIL study (J Endocrinol Invest. 2016 Apr;39(4):439–46) has shown that the combination of anastrozole to an LHRH analogue for 24 months is safe and effective in ameliorating PAH in girls with early puberty +1.21 SDS (+7.51 cm) compared to inhibition of puberty alone +0.31 SDS (+1.92 cm), P=...

Atopic dermatitis (AD) is a chronic inflammatory disease affecting children and adolescence. The traditional therapeutic options for AD, including emollients topically and immune modulatory agents systemically focusing on reducing skin inflammation and restoring the function of the epidermal barrier, are proven ineffective in many cases. Several studies have linked vitamin D supplementation with either a decreased risk to develop AD or a clinical improvement of the symptoms of...

Background: Third generation aromatase inhibitors (AI) have never been used as monotherapy, except for Mc Cune-Albright syndrome and autonomous ovarian cysts, to increase predicted adult height (PAH) in girls, mainly due to the theoretical concern of hyperandrogenism. Our previously published GAIL study [J Endocrinol Invest. 2016 Apr;39(4):439–46] has shown that the combination of anastrozole to an LHRH analogue for 24 months is safe and effective in ameliorating PAH in g...

Backgound: Alopecia areata (AA) or Alopecia Totalis (AT) is an autoimmune disease directed at the hair follicle, either limited to patchy hair loss over the scalp (focalis), or as total loss of scalp hair (totalis) or as total loss of both scalp and body hair (universalis). Management can be challenging, and despite multiple treatment modalities, no therapy still stands. While localized AA may respond well to topical corticosteroids, many patients require more aggressive secon...

Type 1 diabetes (T1D) hits about 1:300 with rising incidence affecting increasingly younger children. Population screening at ages 2-6yrs with T1D associated autoantibodies (T1Ab) has been recently proven sensitive. While potential treatments to prevent or delay T1D are currently in development, a population based cost-effective preventive strategy is still lacking. Hence, 2000IU cholecalciferol daily in a large birth cohort study published in 2001 reduced by 80% the risk of T...

Background-Hypothesis: Sudden initiation of treatment for diabetes insipidus (DI) with DDAVP causes abrupt volume expansion resulting in particularly high secretion of Atrial Natriuteric Peptide (ANP) (1). ANP blocks all stimulators of zona glomerulosa steroidogenesis, resulting in secondary mineralocorticoid deficiency and acute hyponatremia, causing renal salt wasting (RSW) (2). Cases: Two sisters, a 19-year-old girl (A) and a 7-year-old girl (B) with Wolfra...

Background: Wolfram syndrome (WS) is a rare autosomal recessive genetic disorder. We present two sisters from non-consanguineous parents, who presented to our pediatric endocrinology clinic due to severe polyuria-polydipsia with inappropriately treated DM (HbA1c 8.2% and 10.1%) and untreated DI.Methods: DNA was tested with PCR amplification and sequencing analysis (Sanger sequencing) of the entire coding region and all exon-intron splice junctions of the...