ESPE Abstracts

Introduction: In Pseudohypoparathyroidism (PHP), parathyroid glands are normal or hyperplastic and they can synthesize and secrete parathyroid (PTH) hormone. Serum immunoreactive PTH are elevated even when the patient is normocalcemic. Neither endogenous nor administered PTH raises the serum Ca or lowers the levels of P. Depending on the phenotypic and biological findings, PHP is classified into various types.Case Report:</strong...

Subclinical hypothyroidism (SH) is a biochemical condition defined by increased TSH serum concentration above the upper limit of the reference range associated with normal concentrations of T4 and Free T4. Depending on the degree of TSH elevation SH can be defined mild for TSH values between 4.5-10 mIU/l and severe for TSH levels >10 mIU/l.The major cause of SH is chronic autoimmune thyroiditis, other causes are persistent neonatal hyperthyrotropinem...

Novel CNS imaging techniques is a fast advancing field with frequent new developments in scanner’s hardware, protocols, clinical indications, and post-processing techniques. These techniques are designed to focus on the assessment of functional tissue characteristics, such as neuronal activity (functional MRI- fMRI), microstructural properties (diffusion tensor imaging-DTI) and tissue perfusion (DSC perfusion, ASL). fMRI reveals brain activation during performance of beha...

There are few issues in pediatric endocrinology which have generated as much controversy as that of GH treatment of ISS. The genesis of this debate is totally understandable, given that ISS is not a ‘disease,’ but, rather, a heterogeneous collection of conditions that are defined auxologically as a height below −2 S.D., without evidence of an underlying systemic, nutritional, endocrine or chromosomal disorder. One can quite rightfully state that ...

Homozygous mutation of Insulin receptor (INS-R) gene cause an extremely rare disease called Leprechaunism, and induce intrauterine growth restriction with poor postnatal growth, hyperinsulinemia, postprandial hyperglycaemia, pre-prandial hypoglycaemia, typical facies, lack of subcutaneous fat, thick skin, hypertrichosis, macrogenitosomia in males. The survival is severely compromised in these patients. Treatment with diazoxide could ameliorate glycaemic control, however these ...

Background: Idiopathic ketotic hypoglycaemia (IKH) is an exclusion diagnosis and the most common cause of hypoglycaemia in childhood. Glycogen Storage disease (GSD) type IX comprises one quarter of all GSD’s. GSDIXa, encoded by PHKA2, is the most frequent subtype.Objective: To investigate whether IKH may be undiagnosed GSDIXa.Methods: Hospital file review and next generation sequence 29 gene GSD-panel.<p class="ab...

Traditional medical management of children born with atypical genitals includes genital surgery during early childhood. Young children cannot give informed consent and surgery is usually undertaken after a decision made by the multidisciplinary team with parental input. Long-term outcomes are uncertain and there is scanty research supporting the benefits of surgery on physical or mental well-being. Adult patients clearly describe the distress of multiple genital operations dur...

Background: Management of patients with CAH remains challenging. There is increasing evidence to suggest that failure to optimize treatment during childhood not only affects final height but also leads to psychological and psychiatric problems. Previous qualitative structural T2-weighted MRI studies have identified white matter hyper-intensities in up to 46% of CAH patients. The nature and functional relevance of these abnormalities remains unknown.Objec...

Background: In most countries of the world the prenatal glucocorticoid treatment to prevent reproductive losses in hyperandrogenic pregnancies has been found non-efficient. In Russia, up to present, dexamethasone has been listed in the standard threapy of pregnancy noncarrying risk of hyperandrogenic women. Simultaneuously, during the last decade the safety of treating pregnant women with synthetic glucocorticoids has been the subject-matter of intense debates considering poss...

Background/aims: Several studies demonstrated rapid growth during the first year of life in infants with congenital adrenal hyperplasia (CAH) which has a considerable effect on final adult height. Whether decreased height potential is caused by inadequate suppression of adrenal androgens, excess steroid therapy or salt wasting itself is a matter of debate. Thus, we aimed to analyze growth pattern in infants with CAH during first year of life and the effect of therapy on those ...