ESPE Abstracts

Background: It is difficult to define the laboratory finding of hyperandrogenism and associate it with clinical findings in children and adolescents. Androgen levels can be high in obesity, hirsutism, and PCOS. The free androgen index (FAI) is a simple ratio used to evaluate the biologically active testosteroneObjective and hypotheses: Our aim was to determine the FAI in adolescent females and to evaluated how this index is influenced in adolescents diag...

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...

Background: 4p duplication syndrome is a very rare chromosomal disorder. In the literature; dysmorphic facial features, learning disability, speech retardation, overgrowth, musculoskeletal abnormalities, attention deficit hyperactivity disorder and autism syndrome have been reported to be associated with 4p16.3 duplication. Here we present a patient who admitted to our clinic with complaints of growth in hands and feet along with delayed speech and mental retardation. The gene...

Aim: Premature pubarche is defined as the start of axillary and pubic hair before age 9 in boys and 8 in girls. 10 times more common in girls than boys. Central precocious puberty is a condition due to early activation of hypothalamic-pituitary- gonadal axis associated with breast development before age 8 in girls and testicular volume growth before age 9 in boys. Despite this axle is not known exactly which hormones are respnsible for the activation, the role of kisspeptin&#1...

Introduction: Idiopathic short stature(ISS) refers to children who are short because there is no identifiable defect in the growth hormone (GH)/insulin-like growth factor(IGF) axis and no other endocrine or genetic disorders. The genetic etiology of ISS in children was investigated in this study using targeted next-generation sequencing(NGS).Method: Eighty patients with short stature of unknown etiology were included in ...