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: Early and fast puberty (EFP) in girls, defined as pubertal onset at age 8-9 yr., with an accelerated course, may cause compromised final adult height (FAHt). Treatment with a gonadotropin-suppressive agent is still controversial because the improvement in FAHt is equivocal and there may be a risk of overweight.Aim of the study: We analyzed the data of 24 girls with EFP treated with GnRH analog (GnRH) since Tanner stage 2-3,...

Introduction: Hyperprolactinemia (HPrl) secondary to macroadenoma is a rare endocrinopathy in childhood but represents one of the most frequent forms of pituitary adenoma.Case report: A 12yr old girl was referred for assessment of progressive weight gain in the last 1.5 years. Despite trials of weight control by changing the dietary habit and daily exercise weight her BMI SDS increased from 1.2 to 2.2. This was associated with progressiv...

Introduction: In diabetic pregnancies, data about the interaction between maternal, placental, and fetal IGF1/IGFBP in relation to newborn size is not clear,Aim: To review research papers published in Pubmed, Google scholar, Research gate, and Scopus in the past 20 years on the relation between placental IGF1/IGFBP-1 and fetal/infantile/childhood growth in pregnancies associated with maternal diabetes.<p class="abste...

Introduction: Stimulated GH peak values have been shown to correlate well with nocturnal GH peak values and with nocturnal mean GH values. In addition, the expression level of serum IGF-1 in ISS has been shown to be significantly lower than that in normal children despite their normal GH peak response to provocation. GH stimulates the production of IGF1; however, their metabolic effects are different. GH has lipolytic and anti-insulin actions while IGF1 has in...

Introduction: The 22q11 deletion is one of the most commonly recognized deletion syndromes in humans (~ 1/4000 live births). Most of the reported defect generally involves a deletion at breakpoints LCR22A and LCR22D causing DiGeorge or velo-cardio-facial syndrome. In deletion syndromes, the phenotype ranges from unspecified dysmorphic features to severe cognitive/behavioral deficits, but normal features can occur depending on the size and amount of gene dosage...

Background: Data about placental weight (PW) in relation to birth weight (BW) and gestational age (GA) are lacking in Arab countries.Objectives: To report the specific centile charts of PW/BW ratio in a large cohort of mother/baby pairs (n= 80277) born between 37th and 42nd weeks of gestation in relation to neonatal growth characteristics and gender.Methods: Retrospective ...

Background: The growth and development of human tissues are critically regulated by the Insulin-like Growth Factor 1 Receptor (IGF1R) and its ligand IGF-1. Mutations in the IGF1R gene and less frequently in the IGF1 gene are associated with a heterogeneous group of growth disorders, manifesting as intrauterine and postnatal growth retardation.Literature Review: In this review, 30 published papers were analyzed, giving a ...

Introduction: Growth Hormone Deficiency (GHD) with concomitant IGF1 resistance presents a complex diagnostic challenge, often featuring a constellation of growth, developmental, and neurologic findings. This case report presents a 6-year-old female with short stature, speech delay, and an abnormal genetic microarray indicative of IGF1 resistance, contributing to a unique clinical presentation.Case Presentation: I.N., a 6...

Background and aims: Early puberty (EP) in girls, characterized by the onset of thelarche between 6 and 8 years of age and/or rapid pubertal progression, remains a topic of debate. This study aims to assess the clinical and hormonal characteristics of girls with early and fast puberty (FEP) and their response to treatment with GnRH analogs (GnRHa) on growth, pubertal progression, and bone maturation.Methods: Data from 22...