ESPE Abstracts

Background: Several years ago, we developed a recombinant cell bioassay to determine serum estrogenic bioactivity (EBA). In addition to its physiological interest, EBA could be a good marker of endocrine-disrupting compounds (EDCs) with estrogenic activity and thus would be useful in the field of environmental-related endocrine diseases.Aims and objectives: To characterise the type of substances that mediate estrogenic activity.Met...

Background: The oestrogenic activity of endocrine-disrupting compounds (EDCs) has been reported to be associated with premature thelarche (PT) and precocious puberty. Some years ago, we developed a recombinant cell bioassay to determine serum estrogenic bioactivity (EBA) that is useful in physiology, as well as in the field of the environmental-related endocrine diseases. We recently improved the assay with an evaluation of EBA before and after incubation with estrogen recepto...

Background: Renal transplantation (RTx) is the most common solid organ transplant procedure. Several studies have reported on puberty and gonadal function in female RTx recipients with controversial results.Objective: We sought to describe puberty and gonadal function in adolescents after RTx before 16 years.Methods: We reported retrospectively the clinical signs of puberty, growth, medication and graft function of 20 girls aged 19...

Background: Congenital goitre presenting in the newborn period is very rare. Here we present a case of congenital hypothyroidism with a large goitre, leading to trachea compression symptoms. Hormone replacement therapy was started leading to normal levels of TSH, FT4, and thyroid volume. In face of maternal normal thyroid levels, dyshormonogenesis considered to be the most probable cause of hypothyroidism.Case presentation: A male full term ne...

Background: Most individuals with neonatal hypothyroidism present clinically asymptomatic or with few symptoms. Early treatment with oral levothyroxine prevents complications related to this disorder. We report a case of a male infant with Short Bowel syndrome (SBS) and congenital hypothyroidism (CH) treated with rectal levothyroxine.Case and presentations: A male patient with previous gastroschisis underwent multiple surgical approaches for small bowel ...

Introduction: Neonatal diabetes is a rare condition that can present in the first months of life. Neonatal diabetes has more than 20 genetic origins that are currently known. About 40% of these patients carry mutations in KCNJ11 and ABCC8 genes, which impair the pancreatic beta-cell K-ATP channels and can be treated with oral sulfonylureas. The purpose of this case report is to present a patient diagnosed with neonatal diabetes and the subsequent management of...

Key Words: Childhood obesity, Prevalence, Covid-19, N. Macedonia Abstract Childhood obesity is a growing concern and a worldwide pandemic. North Macedonia, a small middle-income country with a population of around 2 million, is among the top 10 countries in Europe with a high prevalence of overweight and obesity.  The aim of this study is to observe how the COVID-19 pandemic ...

Introduction: Aromatase excess syndrome (AEXS) is a rare, autosomal dominant disorder, characterized by enhanced extraglandular aromatization of androgens and estrogen excess. Genomic rearrangements in chromosome 15q21 are found to result in overexpression of the aromatase gene CYP19A1. In males it is characterized by pre- or peripubertal gynecomastia, hypogonadotropic hypogonadism, advanced bone age and short adult height. Only a few female patients have been...

Progeria syndromes are rare in children and include several diseases which lead to premature ageing already in children. Therefore, the pediatrician may be confronted with diseases which are normally seen only in persons with advanced age. We report about two children with progeria, in whom diabetes type 2 become manifest early and with a fulminant course in one patient. The first boy was known with Cockayne syndrome, which belongs to the progeria syndromes. He suffered from l...

Background: The BoneXpert method for automated determination of bone age from hand X-rays has always included a determination of the Bone Health Index (BHI) from the cortical thicknesses in the metacarpals.Objective and hypotheses: The aim was to extend this so-called digital X-ray radiogrammetry method into adults, and present reference curves for BHI and three other indices: the metacarpal index, the Exton-Smith index and the volume-per-area (proportio...