ESPE Abstracts

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...

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...

Background: We report the first case of Wolfram syndrome with heterozygous polymorphisms of WFS1 and PTF1A genes.Case description: 16 years-old girl presented with diabetes mellitus at 12 years of age with HbA1c of 8.4 %. The IA-2, Islet cell, Insulin antibodies (Ab) were negative. GAD Ab were positive 26 U/ml (nl< 4). C-peptide level was normal 1.33 ng/ml (1.1-4.4 ng/ml) even after 4 years of diagnosis. She was initi...