ESPE Abstracts

Background: Screening for congenital hypothyroidism (CH) with the possibility of an early treatment has transformed the outlook for children with CH. Despite the unquestioned public health success of newborn screening programs, the management of CH is still controversial. Most patients with positive screening have permanent hypothyroidism but some of them may have transient hyperthyreotropinemia, so it is important to identify these patients in order to avoid lifelong unnecess...

Background: Response to GH treatment has been associated with single nucleotide polymorphisms (SNPs) within the promoter region of growth-related genes including GRB10 (rs1024531 (A/G, allele A increased response)), IGFBP3 (rs3110697 (G/A, G increased response)), CYP19A1 (rs10459592 (T/C, T increased response)) and SOS1 (rs2888586 (G/C, C increased response)). SOS1 is a positive regulator of GH signalling (MAPK pathway); the aromatase CYP19A1 promotes oestrogen synthesis to im...

Background: Congenital hypothyroidism (CH) is the most frequent endocrine disorder during neonatal period and delay in diagnosis and treatment leads to irreversible complications. A high L-thyroxine (LT4) dose is recommended for treatment, while the optimal starting dose is still a matter of debate.Objective and hypotheses: The objective of this study was to determine the effects of various starting doses of LT4 on se...

Background: Autoimmune thyroid disease (AITD), including autoimmune thyroiditis (AT) and Graves’ disease (GD), is a complex autoimmune disease with a strong genetic component. The cytotoxic product of T-lymphocyte antigen-4 (CTLA4) gene, encoding a negative regulator of the T-lymphocyte immune response, was shown to be associated to AITD.Objective and hypotheses: To investigate the association of A49G and C60T polymorphisms of CTLA4 gene in populati...

Background: While polycystic ovary syndrome (PCOS) is implicated with insulin resistance and obesity, little is known about the abnormal energy imbalance contribution to the disease. Basal metabolic rate (BMR) represents the energy expenditure by a normal subject at rest, remote from eating, in a thermally neutral environment, reflecting the 50–70% of total daily metabolism. The relevant literature is limited with conflicting results- worth meta-analy...

Background: Low-dose adrenocorticotropic hormone stimulation test (LDST) is widely used to assess patients for adrenal insufficiency. However, the predictive power of basal cortisol for the performance of LDST is not clear.Objective: To determine the appropriate basal serum cortisol cutt-off values that predict a positive or negative LDST.Design: A single-centre retrospective study...

Background: Severe congenital growth hormone deficiency (cGHD) is a rare but potentially life-threatening condition. Even though random growth hormone (GH) can confirm cGHD during the first week of life, the diagnosis remains extremely challenging in the absence of reliable reference values in healthy neonates and thus of a best diagnostic cut-off.Aims: First, to provide solid reference values for GH concentrations in te...

Background: Transient hyperinsulinism (THI) is a hypoglycemia disorder manifesting during the first days of life and usually resolving within the first weeks or months of life. Neonates exposed to pre- or perinatal stress have a higher risk to develop THI. However, the exact pathomechanism has not been elucidated yet. The objective of this study was to analyze the clinical and biochemical data of neonates with THI and a birth weight <1500 g.<p class="ab...

Background: Central diabetes insipidus (CDI) is characterised by a central deficiency of arginine vasopressin (AVP) with polyuria and polydipsia. The etiology is heterogeneous. The treatment of choice is the oral or nasal application of DDAVP (synthetic analogue of AVP). CDI in the context of coronavirus disease 2019 (COVID19) has been reported in an individual case.Case report: We present a 9-year old male with CDI of u...

Introduction: Hypophosphatasia (HPP) is a congenital disorder of the bone and mineral metabolism. It is based on mutations in the ALPL gene, which codes for tissue-unspecific alkaline phosphatase (TNSAP). Methods:The casuistic of 3 children with heterozygous ALPL mutation are presented. The patients were identified by laboratory data screening for reduced AP activity at the Children's Hospital of the University Hospital Freiburg....