ESPE Abstracts

Background: The annual incidence rate (IR) of childhood-onset type 1 diabetes mellitus (T1D) among Estonian children under the age of 15 between 1983 and 2006 was 12.6 per 100 000 per year, with the highest incidence rate in the age-group 10-14.9 years. During this time period the most rapid increase in incidence was seen in age-group 0-4.9 years, with a 9.3% increase annually.Objective: To calculate the incidence of T1D...

Objective: Most children with short stature remain without an etiologic diagnosis after extensive clinical and laboratory evaluation and are classified as idiopathic short stature (ISS). This study aimed to determine the diagnostic yield of a multigene gene analysis in children classified as ISS.Design and Methods: We selected 102 children with ISS and performed the genetic analysis as part of the initial investigation. ...

Introduction: The majority of children with short stature are classified as ISS by the absence of findings that could elucidate the cause of their growth impairment. Several monogenic defects have already been identified in children with ISS, but the candidate gene approach is not feasible when there are no specific findings to guide a specific genetic test.Objective: To evaluate the diagnostic yield of a targeted gene p...

Introduction: Growth disorders are often caused by monogenic conditions, and genetic investigation should be guided by clinical findings. However, in children with ISS, the absence of specific clinical features prevents the candidate gene approach. ACMG practice guideline (2021) recommends that children with ISS could be evaluated using targeted panel sequencing or WES. In commercial laboratories, WES is often performed and the genetic evaluation is offered as...

Background: The calcium-sensing receptor (CaSR) regulates calcium metabolism by modulating PTH secretion, as well as by direct effect on osteoblasts and osteoclasts, balancing bone formation and resorption. Loss-of-function heterozygous mutations on CASR gene can lead to Familial Hypocalciuric Hypercalcemia (FHH; OMIM #145980), a benign autosomal dominant condition of undefined incidence. Dysplasia Epiphysealis Hemimelica (DEH; OMIM #127800) is a rare...

Introduction: Extrauterine growth retardation is a common characteristic among children born at very low birth weight (VLBW). Over time, recombinant human growth hormone (rhGH) has been used in this group based on indications for children born small for gestational age (SGA). However, this group represents an extreme phenotype to the majority of children born SGA, and data on the outcomes of this therapy in this group are limited.<strong...

Background: Noonan Syndrome (NS; OMIM 163950) is a common autosomal dominant disorder distinguished by facial dysmorphism, short stature, heart defects, chest deformities, and learning disabilities or mental retardation. NS stems from heterozygous germline causative variants in genes regulating the RAS/MAPK signaling pathway, including PTPN11, SOS1, RAF1, RIT1, KRAS, NRAS, BRAF, LZTR1, and SOS2. The condition exhibits considerable clinical variability and shar...

Introduction: Salt wasting is a potentially life-threatening condition in the newborn period. Other than 21 OH-CAH other rarer adrenal causes should be considered in the differential diagnosisObjective: To report the laboratory, clinical features, management and genotype of a series of consecutive patients who showed up at our Center for a salt wasting syndrome in the last 32 years, excluding patients with 21 OH CAH....

Primary hyperparathyroidism is a condition characterized by one or more hyperfunctioning parathyroids leading to hypercalcemia and inappropriately normal or elevated levels of parathyroid hormone (PTH). Clinically it can occur asymptomatically or manifests with osteopenia, increased risk of pathological fractures, nephrolithiasis, gastrointestinal symptoms (vomiting, constipation, abdominal pain) or asthenia. We report the case of A.L.M, a 15-year-old female who went to the Em...

Introduction: in females with precocious thelarche (PT) (< 8 years), elevation of morning luteinizing hormone levels (mLH) may be indicative of pubertal activation of the pituitary gonadal axis. However, this approach could not be satisfactory in real life management of PT due to the risk of reduced specificity and sensitivity of the mLH thresholds. We propose a diagnostic flow-chart based on basal and stimulated gonadotrophins integrated with bone age and ...