ESPE Abstracts

Background: Hypothyroidism has been associated with cognitive and motor impairments, the degree to which mild hypothyroidism, or subclinical hypothyroidism impacts mood and cognitive functions and whether these symptoms respond to treatment, remains controversial. Furthermore, hypothyroidism is associated with an increased susceptibility to depression and reductions in health-related quality of life.Objective and hypotheses: Recent longitudinal studies s...

Background: Isolated hypoaldosteronism is an autosomal recessive inherited disorder of terminal aldosterone synthesis, leading to selective aldosterone deficiency. Two different biochemical forms of this disease have been described, called aldosterone synthase deficiency or corticosterone methyl oxydase, types 1 and 2. In type 1, there is no aldosterone synthase activity and the 18 hydroxycorticosterone (18 OHB) level is low, whereas in type 2, a residual activity of aldostero...

Background: Glucose metabolism effects of vitamin D deficiency are debated. GH therapy is associated with increased insulin values and decreased insulin sensitivity.Objective and hypotheses: To investigate vitamin D status in short children treated with GH- to investigate if the known effects of GH therapy on glucose metabolism are modulated by vitamin D supplementation.Method: 41 children treated with GH for short stature where ev...

Background: Thyroid disorders (subclinical hypothyroidism and structural abnormalities) are common in Williams syndrome (WS) patients.Objective and hypotheses: Central hypothyroidism and GH deficiency (GHD) in a WS patient are discussed.Method: Case report and literature review.Results: A 5-month-old male was admitted to our hospital because of growth failure since the 3rd month, mild dysmorphisms, micropenis...

Background: Turner syndrome (TS) involves a partial or complete loss of an X chromosome. TS patients have an increased susceptibility to various disorders.Objective and hypotheses: To describe the clinical presentation, genotype and follow-up of TS patients controlled in the Pediatric endocrinology department of our hospital.Method: Retrospective study of patients diagnosed with TS at the ‘Navarra Hospital’ between 1980&#...

Congenital Central Hypothyroidism (CeH) is a rare and heterogenous disease that can be part of a combined pituitary hormone deficit (CPHD) condition. The immunoglobulin superfamily member 1 (IGSF1) is the gene more frequently involved in these inherited forms and responsible for the so called X-linked IGSF1 deficiency syndrome, characterized by an estimated incidence of 1: 100.000. The main features are CeH, delayed/disharmonic pubertal development, macroorchidism, va...

Hypothyroid patients post-thyroidectomy require 1.6-1.8 mg/kg/die of Levothyroxine (L-T4). A persistent TSH level above the upper limit despite a daily dose >1.9 mg/kg/die is defined as “refractory” hypothyroidism in adults. Malabsorption and “pseudo-malabsorption” need to be investigated in case of therapeutic failure. L-T4 absorption test (LT4AT) is useful in distinguishing these two conditions but it has only been described in adult age. We ...

Introduction: Children with Small for Gestational Age (SGA) are known to have lower neurocognitive development and an increased in cardiovascular risk in adulthood. 10% of SGA don´t usually do the catch-up and if they meet criteria they have indication to follow Growth Hormone (GH) treatment.Objectives: To establish the difference between SGA diagnosed children who did or did not catch-up (treated with GH), in terms...

Children born small for gestational age (SGA) not showing catch-up growth in the first two years of life may show decreased growth rate and adult height, as well as worse metabolic profile, compared to general population. In these patients, growth hormone (GH) treatment is recommended, showing positive effects on both growth rate and metabolic profile, with good tolerability. The aim of the current study was to evaluate the auxological and metabolic effects and the safety of G...

Case presentation: A 17 month old female child was transferred to our hospital from another hospital where she was admitted to the intensive care unit (ICU) due to cerebral edema, diabetic acidosis and severe dehydration. The patient had fever, polyuria, polydipsia and vomiting presented four days before admission. At her admission she was unconscious with dilated pupils, no reaction to painful stimuli (GCS 4/15) and Kussmaul breathing. Her initial blood glucose level was 391 ...