ESPE Abstracts

Background: GH is secreted in a pulsatile manner. The resulting GH peaks are known to be associated with growth, whereas the trough levels between the peaks are thought to be associated with metabolism in different tissues. GH trough levels were identified as a metabolically active signal in rats in the 1980th leading to differences in fat patterning with central obesity. Obese children are known to have low bone mass and bone mass is reduced in short children.<p class="ab...

The pathological low stature is considered to be one that does not conform to normality (<2 SDS), that with a pathological growth rate. An obvious element is the conditioning that can generate in their professional outings, both in public and private activity. This seems to be evident in the female sex than in the male sex. The health system considers the treatment (with Ghrh) in pathological size without considering sexual dimorphism.Goals: To study...

Introduction: Sulfation is required for the metabolism of numerous compounds, including proteoglycans, steroid hormones, neurotransmitters, toxic chemicals, and drugs like acetaminophen. The sulfate transporter SLC13A1 is responsible for the intestinal absorption and the renal reabsorption of inorganic sulfate, but loss-of-function mutations in this gene have never been described in man. Here, we describe a male with a biallelic loss-of-function variant, i.e.,...

Context: Higher frequency of atypical gender identity, non-heterosexual fantasies and sexual relationships, and cross-gender role behavior has been reported in females with the more severe salt wasting form of congenital adrenal hyperplasia (CAH). Data on these aspects and quality of life (QOL) among the milder, more prevalent form, the non-classic CAH (NCCAH) is scarce.Objective: To assess gender identity, gender role, ...

Background: Growth hormone plays a primary role in stimulating postnatal growth by way of insulin-like growth factor 1 (IGF1) which is produced in the liver in response to GH. A deficiency of GH arrests maturation during childhood, and the stature of such subjects is generally much shorter than the average stature. However, some cases of GH deficiency attain normal stature as adults.Case presentation: A 20 years old man was referred for a further evaluat...

Background: Few studies have addressed the question of psychological impact and long term outcomes in MRKH patients.Objective and hypotheses: Our national multi-centric study aimed to assess MRKH patients’ experience concerning diagnostic announcement, treatment perception, impact on psychic functioning, socio-professional integration, affective and sexual life and quality of life.Method: First 40 MRKH patients aged 19–34...

Background: 3-M syndrome is an autosomal recessive growth disorder characterised by severe pre- and post-natal growth retardation caused by mutations in CUL7, OBSL1 or CCDC8. Clinical characteristics include dysmorphic facial features and fleshy prominent heels with a variable degree of radiological abnormalities.Objective and hypotheses: Evaluation of four new patients from two different families. Cases:Family-1/Patients-1,2: Two ...

Introduction: Maturity-onset diabetes of the youth (MODY), is a genetically and clinically heterogeneous group of diseases in the pancreatic β–cell that impair insulin secreation. It mostly caused by heterozygous mutations in one of 11 different genes associated with β–cell function. The aim of this study is detection of the distribution of both known and novel point mutations of these genes in Turkish population.Pati...

Background: Congenital hypogonadotropic hypogonadism (CHH) is a group of rare disorders responsible for insufficient secretion of the pituitary gonadotropins LH and FSH. We have observed CHH in men with poorer responses to human chorionic gonadotropin (hCG), or combined FSH and hCG for testicular maturation and fertility after adolescence.Objective and hypotheses: The purpose of this research is to clarify how best to tailor-make treatment according to t...

Background: Adrenoleukodystrophy (ALD) is an X-linked disease characterized by impaired β-oxidation of very long-chain fatty acids (VLCFA) and in the most severe cases by inflammatory demyelination in the brain, adrenocortical insufficiency (AI), and death. Seven phenotypes were described, with a higher prevalence of the cerebral forms.Case report: We report two cases of ALD with different evolution, in February 2014. First case, an 11 years old boy...