ESPE Abstracts

Background: Rabson-Mendenhall syndrome is an extremely rare, autosomal recessive, severe insulin resistance syndrome that results from a mutation in the insulin receptor (INSR) gene. Currently, no more than 55 identified cases have been described in the world. Below is a clinical case with a newly diagnosed Rabson-Mendenhall syndrome in a girl in the Republic of Kazakhstan.Clinical case: A 7-year girl was admitted to the...

Intoduction: Pheochromocytoma is a neuroendocrine disease rarely encountered in childhood, and it’s complications are even less frequent among children. Catecholamine-induced cardiomyopathy (CICMPs) is a rare complication of pheochromocytoma with a reported incidence of 8–11 % of all patients. Symptoms are often accompanied by hypertension, which is most common among children. However, classical symptoms such as hypertension, paroxysmal headache, s...

Introduction: McCune Albright syndrome (MAS) is a rare disease caused by mutations of the GNAS1 gene, clinically it is characterized by the classic triad of polyostotic fibrous dysplasia (POFD), cafe-au-lait skin pigmentation, and peripheral precocious puberty.Case Report: We present a clinical case of an 8-year-old boy with a cafe-au-lait skin pigmentation diagnosed with McCune-Albright syndrome in the Republic of Kazak...

Introduction: Noonan syndrome (NS) is an autosomal dominant inherited, rare syndrome that occurs as a result of mutation in the PTPN11 gene. The most common mutation in Noonan syndrome occurs in the PTPN11 gene and characterized by short stature, developmental delay, congenital heart disease, renal anomalies, lymphatic malformations, distinctive facial features of NS: downslanting palpebral fissures, epicanthic folds, hypertelorism, low-set ears short neck, wi...

Introduction: Swyer syndrome is a rare disorder of sexual differentiation with a primary amenorrhea resulting from gonadal dysgenesis. It is characterized by the presence of normal female phenotype with 46 XY caryotype. Females with Swyer syndrome have female external genital organs, and streak gonads that should be removed due to their high malignization potential. Instead of gonads, girls with Swyer syndrome have “gonadal streaks”, in which the o...

Background: Congenital generalized lipodystrophy is a rare and serious genetic disorder that has a profound impact on the quality of life of individuals. The worldwide prevalence of disease is estimated at 1 in 12 million people. It causes significant metabolic abnormalities and may reduce the life expectancy of children and young adults due to the late diagnosis and absence of adequate treatment. Below, we report the case of an 8-year-old boy with Berardinell...

Klinefelter Syndrome (KS), marked by an extra X chromosome (47, XXY karyotype), is the most prevalent sex chromosome disorder in males, appearing in about 0.2% of male births. [1] We present a rare case of Klinefelter Syndrome (KS) characterized by an atypical short stature and growth hormone deficiency Case presentation: 16-year-old male with Klinefelter Syndrome (47, XXY karyotype) presented for evaluation due to significant developmental delays and an unusually short statur...