ESPE Abstracts

Introduction: Oral/enteral caloric intake (KOE) insufficiency may accompany human newborn (NWB) respiratory derangements. We detected axillary temperature(TEMP) relations to NWB blood serum Insulin-like Growth Factor-II(IG2)-blood serum Insulin-like Growth Factor-Binding Protein-3(IB3) ratios(IG2/IB3R). Here we evaluate the TEMP-independent relevance of birth gestational age(GA) and KOE to relationships of O2 supplementation in respiratory gases(O2S) with IG2/...

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...

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 pregnant animals may present increments of...

Objective: To present a patient with hypercalcemia caused by a parathyroid adenoma and a deletion of the VDR gene.Case clinic: The case is that of a 13-year-old male who presented with hypercalcemia, muscle weakness, nephrocalcinosis, two pathological fractures and a family history of nephrocalcinosis. Physical examination was unremarkable, except the presence of a fracture of the left femur. Laboratory findings: Total s...

There is no single conception of sex that covers the multitude of biological process that are commonly encompassed by the term and its cognates. Gonadal sex determination is sometimes known as 'primary' sex determination due to its centrality in our understanding of 'maleness' and 'femaleness'. In mammals, this is characterised by the sexually dimorphic development of an initially bipotential gonadal primordium in the fetus into either a testis or an ov...

Disorders of sex development (DSD) have defined as congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical. Wilms tumor 1(WT1) gene mutations have been described in 46,XY patients with ambiguous genitalia or complete gonadal dysgenesis with or without Wilms tumor, nephropathy, gonadoblastoma and other defects e.g. cryptorchidism, hypospadias. Sex chromosome mosaicism is a major cause of DSD with a wide phenotypic variability. The p...

Background: Ovotesticular disorder of sex development (OT- DSD) is a very rare disorder characterized by the presence of both ovarian and testicular tissue in the same individual. It has an approximate incidence of less than 1/20 000.The patients usually present with ambiguous genitalia and the majority show a 46,XX karyotype, with absence of the SRY sequence.Objective and hypotheses: The study reports the cytogenetic variability and gonadal histological...

Background: Sex chromosome DSD constitute an important category in the definition of DSD.Objective and hypotheses: The study included 379 patients comprising a wide spectrum of presenting features, associated with different arrays of chromosomal abnormalities aiming at. Studying the prevalence of Sex chromosomal abnormalities among DSD patients.Method: Patients were subjected to detailed clinical examination, pubertal staging, cyto...

Background: The diagnosis of GH deficiency in children is based on clinical, auxological, radiographic and biochemical criteria which include response to Pharmacological Estimulation Tests (PhT). It is well known that GH concentrations vary according to the assay method used. Currently in our population, the proposed cut-off value of serum GH PhT is 4.7 ng/ml measured by ICMA using the IRP 98/574.Objective and hypotheses: The aims of this study were to d...

Background: In Turner syndrome (TS), Shox haploinsufficiency accounts largely, but not entirely, for the short stature of patients, which has been estimated at a mean loss of 20 cm with respect to target height. GH treatment has been shown to improve adult height (AH), although individual outcomes vary markedly. Little is known about the relationship between the dosage effects of the X-linked gene and responsiveness to GH.Objective: To determine whether ...