ESPE Abstracts

Objective: Subclinical hypothyroidism (SH) prevalence in the paediatric population is reported between 1.7 and 9.5%. Results of the adult studies on SH showed that long term SH had negative effects on atherosclerosis, dyslipidaemia, insulin resistance and cognitive functions. The decision about treatment of SH in paediatric patients is still a matter of debate. None of the consensus statements published about the management of SH addressed the issue of SH in the paediatric pop...

Context: Polycystic ovary syndrome (PCOS) is defined by androgen excess and ovarian dysfunction in the absence of a specific physiological diagnosis. The best clinical marker of androgen excess is hirsutism, while the best biochemical parameter is still a matter of debate. Current consensus guidelines recommend serum free testosterone as the most sensitive serum parameter to measure androgen excess. Recently, however, novel active androgens and androgen metabo...

Background: Childhood craniopharyngioma (cCP) poses significant risks of hypothalamic damage, leading to severe obesity in up to 75% of survivors. Despite hypothalamus-sparing surgical techniques, hypothalamic obesity remains a prevalent issue. We aim ed to fill a critical gap by exploring the presence of hypothalamic inflammation and gliosis following cCP surgery on MRI. In the future we will correlate our findings to subsequent hypothalamic dysfunction and o...

Introduction: The neonatal threshold for hypoglycaemia is debatable and makes its treatment challenging. Neonatal hypoglycaemia can be transient and yet pose a significant risk of neuroglycopaenia, especially with severe and recurrent hypoglycaemia in Congenital Hyperinsulinism. Untreated hypoglycaemia induced cerebral injury can be identified by magnetic resonance (MR) brain scan changes affecting cerebral white matter, occipital lobes and posterior parietote...

Background: NGLY1 encodes the enzyme N-glycanase that catalyzes protein deglycosylation in the process of protein degradation. Loss of function mutations in NGLY1 lead to a disorder of N-linked deglycosylation which is a rare multisystemic disease. The typical phenotype includes intellectual disability, liver dysfunction, muscular hypotonia, involuntary movements and decreased or absent tear production. Adrenal insufficiency has been previously reported in onl...

Introduction: The insulin-like growth factor 1 receptor (IGF1R) gene, located on chromosome 15q26.3, encodes the 1367 aa tyrosine kinase receptor IGF1R which is involved in many processes, including growth. Few heterozygous mutations and deletions of IGF1R leading to IGF-I resistance have been described in patients with intrauterine and postnatal growth retardation, microcephaly and variable learning difficulties. We report a not yet previous...

Introduction: Type 1 Diabetes(T1) and autoimmune thyroid disease(AITD) can occur concomitantly. Multiple sclerosis(MS), a chronic condition resulting from dysfunction of the immune system, may co-occur with T1D.Aim: We present a 17-year-old boy presented with AITD at 10y old and within seven years developed T1D and MS.Subjects and methods: The patient presented at the age of 10y ol...

Introduction: X-linked adrenoleukodystrophy (X-ALD) is a rare autosomal recessive neurodegenerative disease caused by a mutation in the ABCD1 gene. Although its clinical presentation varies, X-ALD is generally characterized by progressive demyelination of the central nervous system, primer adrenal insufficiency, and elevated plasma very long-chain fatty acid (VLCFA) levels. Herein, we aimed to present a case of X-ALD with normal VLCFA caused by a path...

Aims: To describe a case of premature adrenarche with pseudohypoparathyroidism, an as yet unreported combination.Case: An otherwise well 8 year old girl presented to a Paediatric Endocrine Clinic with early pubic hair development suggestive of Premature Adrenarche. Blood tests revealed hypocalcaemia, elevated phosphate and highly elevated parathyroid hormone (PTH) level, giving a biochemical diagnosis of pseudohypoparathyroidism. She had normal stature (...

Background and aims: Existence and diagnostic procedures of neurosecretory dysfunction (NSD) are still a matter of debate. The aim of the study was to analyse prediagnostic data of short-statured children with pathologic and normal spontaneous GH-secretion and to evaluate the effect of GH-therapy in NSD-patients.Methods: Of 90 children aged 3–16 years, in whom 12-hour night profiles for GH-secretion were performed (unicentric), in 49 NSD was diagnos...