ESPE Abstracts

Background: 3β-hydroxysteroid dehydrogenase (3βHSD) deficiency is a rare form of congenital adrenal hyperplasia (CAH) and caused by loss of function mutations in the HSD3B2 gene. In classic form, affected patients have salt wasting early in infancy and may have ambiguous genitalia in both sexes. Herein we report a nonvirilized female patient with classic form of 3βHSD deficiency due to homozygous S218P mutation in the HSD3B2 gene and classic phenylketonuria....

Background: GnRHa therapy is shown to be beneficial in increasing final height when started before 6 years of age in girls with idiopathic CPP(iCPP). However controversial data exist in improvement of final height whose pubertal signs appear after age of 6.Aim: To investigate effect of age of onset of GnRHa therapy on final height n girls with iCPP, and to evaluate factors affecting height gain.<st...

Background: Studies investigating effects of GnRHa therapy on body weight (BW) and BMI in subjects with CPP are generally including short term effects.Aim: To investigate changes in BMI at the beginning, during and two years after completion of GnRHa therapy to determine influential factors in girls with idiopathic CPP.Methods: Data of 138 girls who completed GnRHa therapy for iCPP...

Background: Organic lesions are present in 5-10% of cases with CPP. Determinants of an increased risk for organic pathology underlying CPP in girls are debatable. CNS imaging is recommended for girls who have pubertal signs before 6 years of age. Although neurological findings may suggest organic pathology, other clinical features and hormonal variables have not been adequately examined.Aim: To analyze clinical&h...

Background: Neurofibromatosis-Noonan Syndrome (NFNS) is a distinct entity which has variable features of both neurofibromatosis 1 (NF1) and Noonan syndrome (NS). In majority of cases NF1 mutations have been demonstrated. Short stature is one of the major causes for these patients requiring medical attention. GH deficiency (GHD) may accompany in some cases with NF1 or NS cases, however there are rare case reports on NFNS receiving GH therapy.Objective and...

Background: 17-β-hydroxysteroid dehydrogenase 3 (17-β-HSD3) deficiency is a rare disorder of sex development due to impaired conversion of androstenedione to testosterone. Children with 46,XY karyotype often have female appearing external or ambiguous genitalia at birth. At the time of puberty, virilisation can occur. Therefore 46,XY patients with HSD17B3 gene defects should be raised as male.Objective and hypotheses: When a child with 46,XY ka...

Background: Juvenile Paget’s disease is a rare autosomal recessive osteopathy. Patients presenting in infancy develop severe bone deformities and may never walk. Bisphosphonate therapy is used to decrease bone turnover and it has generally good responses in milder forms of the disease. However there is no long-term experience of bisphosphonates in severe infantile forms.Case report: A 9 month-old boy was referred to our clinic for bone deformities. ...

Introduction: Obesity may increase the risk of cardiovascular disease (CVD) in patients with type 1 diabetes (T1DM). Risk of CVD in girls with T1DM is suggested to be higher than boys, however data pertaining to risk of CVD in boys are limited. The aim of this study is to determine the prevalence of obesity and risk factors of CVD in adolescents with T1DM as well as the impact of gender on these parameters.Methods: This ...

Background: It has been reported that 25–75% of patients with diagnosis of growth hormone deficiency (GHD) may show normal growth hormone (GH) responses in repeated stimulation tests after completion of treatment. Retests are typically conducted following completion of growth phase. In a small number of studies retests are conducted during early stages of GH therapy. Accuracy of early retesting to exclude GHD can be evaluated by adult heights of those wh...

Background and Aim: Priming with sex steroids before growth hormone (GH) stimulation tests is considered to increase the specificity of the GH stimulation tests, however, its use in the diagnosis of growth hormone deficiency (GHD) is still controversial. Purpose of this study is to analyze efficacy of sex steroid priming in the diagnosis of GHD.Methods: The study comprised 115 peripubertal boys who were diagnosed with is...