ESPE Abstracts

Introduction: One of the strategies of searching the genetic causes of CDGP is analysing the genes responsible for hypogonadotropic hypogonadism (HH).Objective: To investigate the role of the HS6ST1 gene in development CDGP.Materials and Methods: Two patients - height and BMI SDS, bone age, genitometric parameters, basal hormones, GnRH analogue test, hCG test, olfactometry, brain-M...

Background: Hormone replacement in congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) aims at mimicking the physiologic secretion patterns of cortisol and aldosterone. However, available glucocorticoid preparations do not allow to achieve an adequate cortisol peak during the early morning hours, a milder peak during the evening, and low cortisol serum levels at night. As a consequence, intermittent ACTH hypersecretion may induce the...

Introduction: Adrenal insufficiency (AI) represents a severe deficiency in the synthesis and release of cortisol and/or aldosterone. The prevalence of primary/secondary AI is estimated to be 20–50 per 100,000 individuals across Europe. However, data on its prevalence in Central Asia (CA) remains unknown. Kazakhstan is a geographically large CA country with a population of 20 million people. This contributes to the sparse distribution of specialized outpa...

Background: The first Long-Acting Growth Hormone (LAGH) therapy, Somatrogon, has been available in Italy since March 2023 for children with growth hormone deficiency (GHD) older than 3 years, offering a convenient way of administering the treatment once weekly instead of once daily. Clinical trials have demonstrated the efficacy and safety of LAGH treatment in children with GHD. We aim ed to evaluate the real-world experience of using Somatrogon at a tertiary ...

Background: In children, severe obesity represents a growing public health concern, with implications for both immediate and long-term health outcomes. We present a complex case of an 8-year-old female with autism spectrum disorder (ASD), systemic sclerosis, and severe obesity, further complicated by insulin resistance and poor metabolic control.Case Presentation: Laboratory findings indicate liver inflammation or damage...

Objective: Treacher Collins syndrome (TCS) is rare autosomal dominant genetic condition characterized by the following features of the head and face: absence of the ears, down-slanting palpebral fissures, eyelid colobomas, microtia, bilateral choanal atresia and etc. Prevalence of TCS is from 1 per 25,000 to 1 in 50,000 live births. Most of TCS patients don’t have endocrine disorders that is why endocrinologists are not familiar with this condit...

Background: Hypogonadotorpic hypogonadism is a heterogeneous disease which is often accompanied by a variety of non-reproductive congenital phenotypes such as anosmia, synkinesia, deafness, renal or limbs malformations. The combination of hypogonadotropic hypogonadism with congenital defects is crucial to early diagnosis.Result: Our patient is a 13,5-year-old boy. He was born at 39-40 weeks of gestation, birth length was...

Background: Autoimmune thyroiditis, which can occur in chronic arthritis, involves the immune system attacking the thyroid gland, potentially causing hypothyroidism or hyperthyroidism. However, data on thyroid involvement in Still's disease remains limited, highlighting a significant gap in understanding the full spectrum of autoimmune and autoinflammatory interactions in this condition.The study aims: to examine th...

Context: Childhood obesity is supposed to affect growth and development in children but there is uncertainty with regard to dynamics and potential causes. We analyzed differences in age-related growth patterns of obese and normal-weight children and their association with circulating endocrine and metabolic factors.Objective/Design: In a large German childhood cohort from Leipzig including 7986 children (22793 data sets) we compared cross-sectional and l...

Introduction: Quality of life (QoL) is a multidimensional indicator including several functions and represents an important evaluator of patient’s health, especially in chronic diseases. Treatment with aGnRH in Central Precocious Puberty (CPP) is source of stress for patients and families. The aim of our study is to evaluate QoL and levels of therapy-related stress in patients with CPP and in their families during and after treatment.Material and me...