Endocrine Abstracts

Introduction: These last years have seen emerger identification of a large number of genes responsible of bone disease. La dyschondrosteosis: Leri weill is more important to know. It include short stature due to moderate micromelia mesomelic associated with a very characteristic deformity of the wrist: the Madelung deformity. This pathology is caused by haploinsufficiency of the SHOX gene, a gene essential in regulating the growth and remodeling of skeletal. We report observat...

Background: Visceral adipose tissue (VAT) is less insulin sensitive and more harmful than subcutaneous adipose tissue (SAT). In adipocytes, IGF1 receptor signaling has been linked to insulin resistance, but it is unknown whether VAT and SAT also differ in production of IGFs. Therefore, we compared IGFs, IGFBP-4 and PAPP-A production in cultured fragments of VAT and SAT from obese subjects.Methods: VAT and SAT was collected perioperatively during elective...

Introduction: There is evidence that chronic mild hyponatremia (serum (Na+) 130–135 mmol/l) may have clinical consequences, such as fracture occurrence and neurological symptoms including unsteadiness, falls and attention deficits. These have been traditionally associated to water movement into nervous cells, as a result of the hypotonic state. The aim of the present study was to determine whether low extracellular sodium directly exerts negative effects on human neuronal...

Introduction: A common genetic polymorphism in the GH receptor (GHR) is deletion of the entire exon 3 sequence (GHRd3 isoform). The GHRd3 isoform seems to be more sensitive with increased downstream GH signalling in activated exon 3 deleted receptor dimers (GHRd3/d3) compared to full length receptor dimers (GHRfl/fl). Presence of the GHRd3 isoform might be associated to pre- and postnatal growth and pubertal development in boys, although controversy exists. The aim was to inve...

Introduction: GH deficiency (GHD) in adults is associated with low serum levels of insulin-like growth factor 1 (IGF1) and a deteriorated cardio-metabolic profile. GH replacement therapy (GHRT) increases serum IGF1, an important mediator of the treatment response and safety marker of dose titration. The interindividual variation in treatment response is large and most likely influenced by genetic factors.Aim: The aim of this study was to test the hypothe...

Background: TSH surge is the most sensitive test currently available for confirming the diagnosis of central hypothyroidism, a hidden cause of idiopathic short stature.Objective: Studying the nocturnal TSH surge in children with the idiopathic shot stature.Patients and method: The study included 30 healthy children (10–18 years) as a control group and 30 children of matching age and sex with ISS as a patients group. TSH was me...

GH is an important regulator of longitudinal growth in children and metabolism in adults. GH is used for treatment deficiency disorders in both children and adults. GH treatment is safe and well tolerated. However, its clinical use is limited to daily s.c. injections which poses a challenge for both the patients and the physicians and has prompted research into alternative approaches to GH treatment.NNC0195-0092 is a hGH derivative conjugated with an alb...

Introduction: While severe GH deficiency (GHD) is a well-established feature of Sheehan’s syndrome (SS), the effects of GH deficiency in these patients has not been extensively investigated. In the present studyh we evaluated the cardiovascular risk in patients with SS.Methods: Twenty female with SS and well-treated with cortisone and thyroid hormones was included. Metabolic syndrome according to IDF-2005 criteria and insulin resistance estimated by...

Introduction: Acromegaly is a rare disease characterized by GH and IGF1 hypersecretion and increased cardiovascular mortality. Ultrasonographic measurement of carotid intima media thickness (CIMT) gives substantial information about early atherosclerosis. We aimed to evaluate CIMT and its determinants in a group of acromegaly patient.Patients and methods: Forty-four acromegaly patient and 43 age, sex and body mass index (BMI) matched healthy controls wer...

Introduction: More data are needed to confirm the long-term safety of recombinant human GH (rhGH) in adult patients with severe GH deficiency (GHD), particularly with regard to diabetogenic potential. PATRO Adults is an ongoing observational, multicentre, open, longitudinal study of Omnitrope, being conducted in hospitals and specialised endocrinology clinics across Europe. Here, we present safety data from an interim analysis.Methods: Eligible patients ...

Introduction: Short stature is the most common physical abnormality in Turner syndrome (TS), with adult stature averaging 20 cm shorter compared to the general population.Aim: To study the efficiency of early initiation for GH therapy on final stature for patients with Turner syndrome and to prove it’s important role in obtaining optimal growth rates.Methods: We studied a lot of 24 patients with TS diagnosed and followed up in...

Introduction: There is a well-established association between acromegaly and insulin resistance (IR). The abnormalities in glucose metabolism may be an important risk factor of cardiovascular morbid-mortality in these patients.Objective: Evaluation of glucose metabolism abnormalities in a population of naïve acromegalic patients and its relationship with delay in diagnosis, gender, levels of insulin like growth factor 1 (IGF1) and GH.<p class="a...

Introduction: Insulin-like growth factor 1 is a single-chain polypeptide of 70 amino acids. Quantitative determination of IGF1 is a one-step sandwich chemiluminescence immunoassay (CLIA). IGF1 is being used by physicians as a screening test for GH deficiency and excess. It became crucial to find an alternative automated platform for the current available methods.Design: Evaluation took place in an HMO central lab, currently using the SIEMENS IMMULITE 200...

We present the case of a patient diagnosed with panhypopituitarism at an adult age. The tenth child of a poor family, PA consulted the endocrinologist accompanied by his 65 year old mother. PA was 20 years old at the first consultation. He was, however, entrapped in the body of a 12 year old child, being only 139 cm tall and having no signs of puberty onset. He was slightly eunuchoid, with long limbs, due to delayed puberty, with micropenis and lack of androgen dependent hair,...

The Silver–Russell syndrome (SRS) is a sporadic heterogeneous disorder, clinically and genetically. The intrauterine growth retardation (IUGR), short stature because of lack of catch-up growth, relative macrocrania and limb asymmetry are the major diagnostic criterias, associated with a large clinical criterias (minor criteria).We report a case series of 15 cases with SRS, our goal is to relate the frequency of each symptom of the diagnostic criteri...

Several observations brought reported a big frequency (12–50%) of pituitary insufficiency and abnormalities of the median line. The endocrine disorders are hypothamic origin and come along of pituitary ontogeny in more 30% of the cases. These abnormalities are associated with a defect of the embryological development of the bird nasofrontal which allows the development of various regions of the encephalon and the face. We report the observations of two boys KY 18 years ol...