ESPE Abstracts

Introduction: The role of enlarged adenoid tissue has been long discussed in terms of causes leading obstructive sleep apnea. Sleep disorders in children with adenoid vegetation impair quality and duration of REM sleep where GH secretion is higher. We also thought that cortisol that displays a circadian rhythm might be also affected by sleep disorders. For this purpose, we planned to determine presence of neurosecretory dysfunction (NSD), time and level of cortisol peak in the...

Background: Septo-optic dysplasia (SOD) is a highly heterogeneous condition with a variable phenotype, defined as two or more features of the classical triad: i) optic nerve hypoplasia, ii) midline brain defects, and iii) pituitary hormone abnormalities.Objective and hypotheses: To describe the clinical, endocrine, and neuroimaging features in eight children with SOD.Method: Eight (six males) consecutive patients, diagnosed with SO...

Background: Polyuria and polydipsia must never be underestimated.Objective and hypotheses: A 7-year-old girl presented with polyuria, polydipsia and nocturia of 1 year duration, during which she underwent outpatient follow up with her general practitioner and urologist. No weight loss or other endocrine signs.Method: Polyuria was confirmed by water balance (120 ml/kg per 24 h), urinary osmolality (222 mmol/kg), plasma osmolality (2...

Background: With improvements in assays and an increasing need for non-invasive out-patient based investigations, there is a renewed interest in the use of urinary gonadotrophins (uGn) for assessing pubertal progress.Objective and hypotheses: This study aims to establish the correlation between serum and urinary LH and FSH in patients with pubertal concerns.Method: 36 boys and girls aged 14.9 years (range 7.8–17.3) and 9.5 yea...

Background: Mutations in PROP1 are the most common known genetic cause of congenital multiple pituitary hormone deficiency (MPHD).Objective and hypotheses: Aim of our study was to clinically and genetically characterize a cohort of Lithuanian patients with MPHD.Method: Seventy-six Lithuanian MPHD patients were tested for PROP1 gene by Sanger sequencing. Hormonal investigations, pituitary imaging and GH therapy wer...

Background: Traumatic brain injury (TBI) is a frequent cause of endocrine dysfunctions. However, studies in children are scarce.Objective and hypotheses: To determine pituitary function in children after TBI. To analyze risk factors related with endocrine dysfunctions after 12 months follow up.Method: A prospective study of endocrine function in children after head injury was performed. Data was collected for baseline Glasgow coma ...

Background: Currently, the diagnosis of GH deficiency (GHD) in infants and young children is based on the assessment of GH serum levels either during hypoglycaemia or after pharmacological stimulation tests. However, GH cut-off values have not been standardized and provocative tests may be unsafe in this age range.Objective and hypotheses: Brain MRI may replace GH measurements in diagnosing GHD in infancy and young childhood.Method...

Background: DAVID syndrome (deficit in anterior pituitary function and variable immune deficiency) (J Clin Endocrinol Metab 97 E121, 2012) can be caused by NFKB2 mutations (Am J Hum Genet 93 13, 2013). All patients have an orthotopic posterior pituitary (PP) and most only ACTH deficiency.Objective and Hypothesis: To describe a girl with common variable immunodeficiency (CVID), ectopic PP (EPP) ...

Background: Pituitary adenomas in childhood are 2–6% of all surgically treated pituitary adenomas at all ages. It has been estimated that TSH secretion is rare (<1% of all pituitary adenomas). Therefore, TSH secreting adenoma is very rare in childhood. Here we present the youngest patient with TSH secreting adenoma.Case: A 7-year-old boy was referred to our clinic with thyroid dysfunction by the psychiatry clinic, during his evaluation of hypera...

Background: Craniopharyngioma is the most common parasellar tumor in childhood arising from remnants of Rathke’s pouch. As the hypothalamus plays a vital role in regulation of body weight by balancing energy intake and expenditure, hypothalamic damage by structural lesions is one of the most common causes of hypothalamic obesity. This study investigated prevalence, risk factors for the development of hypothalamic obesity, and consequent morbidities in children following t...