ESPE Abstracts

Introduction: Laron Syndrome (LS) or primary growth hormone (GH) insensitivity is an autosomal recessive disorder due to variants in the GH-receptor (GHR) gene or to post-receptor defects. LS prevalence is estimated 1-9/1000000. We report a case of LS with a missense variant in the GHR gene not previously described.Case: female, Turkish, was referred to our clinic for short stature. Born at term, birth ...

Introduction: McCune Albright Syndrome (MAS) is a rare disorder caused by somatic activating mutations of the GNAS gene, characterized by monostotic/polyostotic fibrous dysplasia, café au lait skin pigmentation and hyperfunctioning endocrinopathies. We report a case of MAS presenting with mild phenotypic characteristics and central precocious puberty (CPP).Case: Indian female was referred to our clinic fo...

Introduction: Benign hereditary chorea (BHC) is a rare, autosomal dominant disorder, described as a non-progressive chorea of early onset. BHC can present as single neurologic disorder (13%), brain and thyroid disease (30%) or ‘brain–lung–thyroid syndrome’ with congenital hypothyroidism and neonatal respiratory distress syndrome (50%).Case Report: 18 months old infant was admitted to the Endocrinology Outpatient Clinic with motor dela...

Introduction: The IGSF1 gene deficiency syndrome (IDS) is an X-linked disorder involving hormonal disfunctions. We report a case of Central Hypothyroidism (CH) due to a Xq26.1q26.2 microdeletion including the IGSF1 gene.Case: this boy was referred to our clinic for thyroid dysfunction. He was born at term by caesarean section due to maternal uterine myoma. Pregnancy was normal, parents were non consangu...

Background: Glucocorticoid (GC) treatment is associated with many unwanted effects but osteoporosis and fractures are the most serious adverse events. Several large case–control studies have shown strong associations between exposure to glucocorticoids and the risk of fractures. By other hand, multiple factors have been associated with avascular necrosis (AVN) in systemic lupus erythematosus (SLE), but it is steroid use that has been...

Birth chest circumference(CC) shows often, like birth gestational age(GA), tight direct relations to birth body weight(BW). However distinct connections of hypoxia/undernutrition with different body structures might be suspected based on brain-, heart- and adrenal-sparing following intrauterine growth restriction and, postnatally, on higher chest size for body mass observed at high altitude. Growth retarded fetuses gestated by hypoxic rats may present increments of blood serum...

Introduction: Human newborn(NWB) respiratory derangements may be concomitant to oral/enteral caloric intake (KOE) insufficiency. We evidenced a possible involvement of axillary temperature(TEMP) in relationships between preterm birth (PTB) and blood serum Insulin-like Growth Factor-I(IG1) in NWBs. Here we evaluate the TEMP-independent role of birth gestational age(GA) and KOE in relations of O2 supplementation in respiratory gases(O2S) to IG1 in the not-life-t...

Introduction: Preterm delivery may comport blood serum Insulin-like Growth Factor-I (IG1) decrements and lower body temperature during the first days of postnatal life of the human newborn (NWB). We evaluated the role of preterm delivery in associations between axillary temperature (TEMP) and IG1 in NWBs without life-threatening disease.Methods: NWBs with any among total parenteral nutrition, blood transfusion, therapeutic hypothermia, life-threatening d...

Background: Birth chest circumference (BC) may be related to Insulin-like Growth Factor (IGF)-Binding-Protein-3 blood serum levels (IB3) in the human newborn (NWB).Objective and hypotheses: We evaluated the relevance of birth body weight (BW) to birth crown-heel length (BL) ratio (BW through BL, BW/BL) in BC relations to IB3 after control for BW for birth gestational age (GA)<=10th centile (SGA), respiratory O2 supplementation (O2S), assisted ventila...

Background/objective and hypotheses: Not-brain-related birth body weight (NBBW) relevance to known relationships of birth gestational age (GA) with blood serum IGF binding protein 3 (IB3) was studied in the not-life threatened newborn (NWB).Method: SEX, GA (unit:complete week), postnatal age (PNA; unit:day), birth body weight (BW; unit:g), birth head circumference (HC; unit:cm), BW<10th centile for GA (SGA), caesarean section (CS), predominant oral/e...