ESPE Abstracts

Introduction: Van Wyk-Grumbach Syndrome (VWGS) is a constellation of symptoms including precocious puberty without adrenarche, delayed bone age, ovarian cysts, and hypothyroidism.Case report: We report here a five-year-old girl who presented for evaluation of obesity, abdominal distension, vaginal bleeding, and abdominal distention. Her HtSDS =-1.3 and BMI SDS =1.5. A large abdominal mass was palpable. She had no breast development or pubic hair. Her Inv...

Introduction: The term hybrid diabetes (HD) describes a form of diabetes in which hyperglycemia occurs in obese children in the presence of positive autoimmunity against the beta cells. Few data are available about the clinical presentation and the course of disease in children with this form of diabetes.Aim: We describe the clinical characteristics and response to treatment in 7 children with hybrid diabetes.<p clas...

Introduction: Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease. In 2016, nusinersen (Spinraza) was approved by the FDA. The first AAV9-based gene therapy (Zolgensma), was approved by the FDA (2019) for the treatment of infants with SMA. We report an SMA case with recurrent hypoglycemic events after gene therapy.Case Report: A 22 months old boy, with SMA type 1 was born at term by CS for fetal bradycardia....

Background/aims: Primary IGF1 deficiency (IGFD)’ is defined by low levels of IGF1 without a concomitant impairment in GH secretion in the absence of secondary cause. The aims of this study were to evaluate the prevalence of non-GH deficient IGFD in prepubertal children with isolated short stature (SS) and to describe their response to GH therapy.Methods: This retrospective study included all children with isolated S...

In ISS is a condition with a height is >2SD below the corresponding mean for age, sex, and population. Thyroid abnormalities reported during GH therapy in GH deficient (GHD) children but not well studied in ISS children on GH therapy.Aim: To investigate effects of GH therapy on TF in a group of euthyroid children with ISS in comparison with ISS group not receiving GH therapy and GHD group on GH therapy.Material...

ISS is a condition in which the height is more than 2 SD below the corresponding mean height for age, sex and population, in whom no identifiable disorder is present. Some ISS patients may have varying degrees of IGF-1 deficiency. Recombinant GH treatment has been used by some authors with variable results. Theoretically, low IGF-I level at presentation may affect their response to GH therapy. The question is: do children with ISS and low IGF-I respond differently to GH therap...

Introduction: Mid-parental height (MPH) is a useful tool in the prediction of final adult height in normal children as well as those on growth hormone (GH) therapy. Aim of the study to evaluate the growth response to GH therapy in GHD children in relation to their MPH.Methods: This retrospective study included 22 short prepubertal children with GHD (peak GH<10 μg/l). They were followed in the Endocrine clinic be...

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...