ESPE Abstracts

Objective: The first line of treatment for Cushing`s disease (CD) is transsphenoidal surgery (TSS), whose effectiveness range is from 70 to 90%. If surgical treatment is unsuccessful or recurrence appears, radiation treatment (RT) is the next therapeutic option, which effectiveness range is also 90%, but the hypopituitarism rate as side effect of treatment is higher.Aim: Analysis of recurrence rates of CD and side ...

Background: Puberty is a dynamic period of physical growth. Genetic factors, increasing prevalence of adiposity, environmental factors and the widespread presence of endocrine-disrupting chemicals are suspected to contribute to the trend of earlier pubertal onset.Method: The study group consists of 32 girls diagnosed with central puberty precocious. The eating habits and physical activity status were evaluated with a detailed questionnaire. Daily calorie...

Objectives: Familial hypocalcemia is a rare autosomal dominant disease characterized by hypercalciuric hypocalcemia. The disorder is caused by heterozygous mutation in the CASR gene that encode a calcium-sensing receptor in parathyroid glands and kidney tubules.Clinical case: The boy was born at term from non-consanguineous parents with normal length and weight. On the second day of life he was admitted to an intensive care department with convu...

Background: Androgen insensitivity syndrome (AIS) is the most common cause of 46,XY sexual differentiation disorders. Clinical presentation is variable among cases with a range from a complete female to male external genitalia. There is a weak correlation between genotype and phenotype.Aım: Our aim is to report clinical and molecular characteristics of siblings with AIS.Patients and methods: Two siblings newborns with ambiguou...

Background: Neurokinin B and kisspeptin appear to play main roles in puberty.Aims and objectives: The aim of the present study was to investigate the diagnostic role of kisspeptin and neurokinin B in central precocious puberty (CPP) and premature thelarche (PT).Methods: The girls who presented with breast development (between 5 and 8 years) were included in the study. All cases underwent bone age (BA) assesment. Basal serum FSH, LH...

Background: False-negative results can occur an extremely high level of substrate at the assay system. This is called the ‘high-dose hook effect’.Case presentation: 14 year-old female patient was referred with short stature, amenorea and hirsutism. Height, weight and blood pressure were 140.5 cm (SDS:−3.5), 43.4 kg (SDS:−1.6) and 120/80 mmHg. She had stage 1 Tanner breast, stage 5 pubic hair and hirsutism (mFG scale: 28) with androi...

Spondyloocular syndrome (OMIM 605822) is an autosomal recessive disorder characterized by skeletal complaints (osteoporosis, platyspondyly, multiple bone fractures), hearing loss and ocular symptoms (cataracts, retinal detachment). XYLT2 gene (OMIM 608125) mutation encoding xylosyltransferase II enzyme which is responsible from the first step of proteoglycan assembly is responsible for the pathogenesis. Phenotypical variability is associated with varying genetic expre...

Background: Adrenal hypoplasia congenital associated with DAX-1 (NROB1) gene mutations is a rare cause of primary adrenal insufficiency in male. It can be presented as a part of Xp21 contiguous gene deletion syndrome which characterized by complex glycerol kinase deficiency (GK), adrenal hypoplasia congenital (NROB1), intellectual disability (IL1RAPL1) and/or Duchenne muscular dystrophy (DMD).Case report: We report a 6-month-old male infant, which presen...

Background: GnRH agonists, leuprolide acetate (LA) and triptorelin acetate (TA), have been widely used in the treatment of central precocious puberty (CPP). But, a comparative data on the effectiveness of these two drugs for CPP treatment is very scarce.Objective: To compare the efficacies of TA and LA treatments in girls with idiopathic CPP.Patients and Methods: Sixty girls with rapidly progressive CPP treated with LA (n=...

Background: The familial type of isolated GH deficiency (IGHD) is characterized by a variable degree of growth restriction, low but detectable GH serum concentrations. The recessive type 1A and 1B, the autosomal-dominant type 2, and X-linked recessive type 3. Phenotype-genotype correlations are notoriously difficult to be established.Objective and hypotheses: Herein, we described the variable clinical status of a family with a novel GH1 mutation which is...