ESPE Abstracts

Bone age (BA) continues to be a valuable tool in assessing children’s growth potential. Children with normal variant short stature can be subdivided into idiopathic short stature (ISS) (with no delay in BA versus chronological age (CA) and constitutional delay (CDG) (with delayed BA versus CA. The response of these two groups to GH therapy remains controversial.Aim, patients, and methods: We studied linear growth, weight gain, skeletal maturation, a...

Introduction: Children with idiopathic short stature have linear growth impairment despite normal or even high levels of GH. In some of these children IGFI level is low (NGH + Low IGFI (IGFSDS<-1.5). It was observed that some children with GHD (Peak GH < 7 ng/dl after provocation) have normal IGFI levels (GHD +Normal IGFI). The linear growth of these two groups at presentation and their response to GH therapy was not studied well.<p class="abstext"...

In normal children, mid parental height (MPH) is a useful tool in assessing children’s growth and in the prediction of their final adult height. However, this may not be true for short children, especially those with height SD (HtSDS) > - 1SDS compared to their mid-parental height SDS (MPHtSDS). The difference may indicate underlying pathology.Aim: To assess growth response (change in HtSDS) to GH therapy in short prepubertal ch...

Background: Debate still exists about the safety of long-term use of prednisone (PD) versus hydrocortisone (HC) for treating children with CAH. Relatively slight supraphysiologic levels may be enough to blunt growth velocity, increase weight gain.Objectives of the study: We evaluated the anthropometric and biochemical effects of long-term PD versus HC treatment in children with CAH-21OHD.<p class="ab...

Background: Stüve-Wiedemann syndrome (SWS) is a rare autosomal recessive disorder, due to mutations in the leukemia inhibitory factor receptor (LIFR) gene. It is characterized by bowed-long bones, joint restrictions, dysautonomia, respiratory and feeding difficulties leading to death during infancy. In SWS survivors beyond 2 years of age, orthopedic problems are the main concern e.g. spinal deformations, osteoporosis and recurrent spontaneous fra...

Objectives: We describe 5 pedigrees with a novel phenotype including GHD associated with primary ovarian insufficiency (POI) and investigate the underlying molecular basis.Patients and Methods: 6 Turkish patients (5F, 1M) born to 5 consanguineous pedigrees with severe GHD were identified. All females had POI; the male had normal puberty. All had severe postnatal growth retardation (height -4.4 to -8.9 SDS at presentation...

Objective: According to the etiology of hyperparathyroidism, it is divided into primer and secondary (uremic). It usually develops due to CaSR mutation in the infancy period. On the other hand, it usually emerges secondary to a parathyroid adenoma in adolescents. Parathyroid adenomas seen in childhood are commonly associated with familial multiple neoplasia syndromes (MEN). Patients may present with bone pain, proximal myopathy, fractures, renal stone, pancreatitis or they can...

Background: Type 2 diabetes is a heterogeneous disorder characterized by the defective of insulin, which can not progressively compensate for insulin resistance, due to the influence of environmental factors on the basis of genetic susceptibility. Hyperglycemia, which starts with insulin resistance, is thought to show toxic effects (glucotoxicity) on β cells and ultimately impairs beta cell function., Although many factors play a role in etiology, obesity is the most comm...

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...