ESPE Abstracts

Background: McCune–Albright syndrome is a rare disorder defined as the triad of peripheral precocious puberty, café-au-lait skin pigmentation and fibrous dysplasia of bone, caused by mutation of the gene GNAS1, resulting in autonomous endocrine hormone excess.Objective and hypotheses: This is the first pediatric case of hirsutism due to tamoxifen, a selective estrogen receptor modulator.Case report: A 53/12 yea...

Background: Polycystic ovary syndrome (PCOS) is characterized by ovulatory dysfunction and excess androgen secretion. Androgens may affect bone marrow cells via androgen receptor which expressed in the bone marrow. Also it is known that especially testosterone increases hemoglobin and hematocrit concentrations.Objective and hypotheses: Our aim in this study is to describe the relation between hyperandrogenism and complete blood count (CBC) parameters in ...

Background: Biomarkers other than microalbuminuria are needed to detect early kidney injury in adolescents with type 1 diabetes.Objective and hypotheses: We aimed to determine diabetic nephropathy in normoalbuminuric and normotensive diabetic adolescents with biomarkers related different segments of the glomeruli (podocalyxin, nephrin and liver type fatty acid binding protein (L-FABP)), and to assess the relationship among these biomarkers and glomerular...

Background: Maturity-onset diabetes of the young type 2 (MODY2) is an autosomal dominant inherited disease caused by heterozygous inactivating mutations in the glucokinase (GCK) gene. It mostly presents with mild fasting hyperglycaemia. MODY2 accounts for 2%–5% of all diabetes cases. It is treated with diet only, and complications are extremely rare. We presented here a family with MODY2 caused by a novel heterozygous p.E51*(c.151.G>T) mutation of the GCK gene.<p ...

Objective: Infants born to mothers with glucose intolerance are at an increased risk of having growth abnormalities at birth and postnatally. This study evaluated the growth pattern of IDMs from birth to the age of 2 years.Research Design and Methods: Anthropometric measures (z scores) from birth, 2,4.6,12,18 and 2 years were measured in 60 IDM and 40 infants of non-diabetic mothers who presented with significant neonatal hypoglycemia (p...

Growth abnormalities at birth and abnormal postnatal pattern of weight gain have been reported in infants born to mothers with gestational diabetes (IDM). This study evaluated the growth pattern from birth to the age of 2 years of 60 IDMs who were born at or near term with significant hypoglycemia. Anthropometric measures (z scores) from birth, 2,4.6,12,18 and 2 years were measured in 60 IDM who presented with significant neonatal hypoglycemia (plasma value less than 20-25 mg/...

Introduction: Childhood hypophysitis (CH) is an extremely rare entity that has difficulties in definition and displays a wide variety of symptomatology. The volume and shape of pituitary gland may increase in physiological periods such as puberty and pregnancy, it may also change in various neuroendocrine and psychiatric diseases. It is important to distinguish physiological changes observed in the pituitary, especially in puberty, from hypophysitis.F...

Introduction: Noonan syndrome (NS) is a dominant autosomal genetic disorder caused by a mutation in the RAS–MAPK pathway. The clinical manifestations usually reported in NS are short stature, pulmonary stenosis, cryptorchidism, hematological abnormalities and dysmorphic face.Patients and Methods: We studied the demographic characteristics, clinical presentations and treatment patterns associated with NS, integratin...

Spondyloepimetaphyseal dysplasias (SEMDs), predominantly associated with disproportionate short stature, comprise a heterogeneous group of autosomal-dominant, autosomal-recessive, and X-linked recessive skeletal dysplasias caused by pathogenic variants in several genes. Here we characterize a distinct form of skeletal dysplasia in 4 individuals from 3 unrelated Emirati families. Through whole exome sequencing, we identify a novel homozygous missense variant (c.1376A>C; p.As...

Background: Congenital hyperinsulinism (CHI) is the most common cause of hyperinsulinaemic hypoglycaemia in the neonatal, infancy, and childhood periods. Its clinical presentation, histology and underlying molecular biology are extremely heterogeneous.Objective and hypotheses: To describe the clinical characteristics, analyse the genotype–phenotype correlations and describe the treatment outcome of Turkish CHI patients.Method:...