ESPE Abstracts

Objective and hypotheses: The purpose was to get the basic data of optimum serum concentration of estrogen in maximizing pubertal growth spurt, and decreasing the acceleration of epiphyseal closure of long bones.Method: i) Fifteen female SD rats (13-week aged; post pubertal growth spurt) were randomly divided into three groups. After 1 week, the group 1 were injected subcutaneously with sesame oil, as a control, group 2 were with 10 μg/kg per week o...

Background: Romania has a 3.3% Rromanes population according to the latest census, but no specific growth charts for this ethnic minority. Current national protocol recommends using the Swiss growth charts developed in 1989. Specific growth charts exist for ethnic subgroups like Turks in Germany and the Netherlands.Objective and hypotheses: A comparison between a Rromanes and a Romanian group of children regarding weight and height disturbances’ pre...

Congenital adrenal insufficiency is a potentially life-threatening condition that can present soon after birth in many different ways. The classic presentation is a salt-losing crisis due to mineralocorticoid insufficiency, often between a week and two of life, but babies with predominant glucocorticoid insufficiency can present with other features such as prolonged jaundice, hypoglycaemia and hyperpigmentation. Most children with congenital adrenal insufficiency present to em...

Background: Both The Endocrine Society and the World Professional Association for Transgender Health (WPATH) published guidelines for the treatment of children and adolescents with gender dysphoria (GD). The guidelines recommend the use of GnRH agonists in adolescence to suppress puberty, and the use of cross-sex hormones starting around age 16 for eligible patients. In actual practice, there is no consensus whether to use these early medical interventions. The aim of our stud...

Background: Deficiency of 11β-hydroxylase is the second most frequent type of congenital adrenal hyperplasia and more common in Turkey than other populations.Objective and hypotheses: The purpose of this study is to examine the spectrum of CYP11B1 gene mutations in Turkish population.Method: 17 patients from 13 families are included in this study. Diagnosis was based on virilisation and high levels of 11-deoxycortisol. 15 case...

Background: Children with congenital adrenal hyperplasia (CAH) may suffer from multiple psychological troubles.Objective and hypotheses: To assess the psychological and behavioral outcome of genetically females with classic CAH and to study the extent to which these behavioral changes could be attributed to high levels of androgens in the prenatal and postnatal periods.Method: 51 genetically females with CAH, representing Prader st...

Background: Homozygous natriuretic peptide receptor-2 (NPR2) mutations cause acromesomelic dysplasia, type Maroteaux, a skeletal dysplasia with extreme disproportionate short stature and recently, heterozygous NPR2 mutations have been identified also in patients with idiopathic short stature (ISS, 2–6%). SHOX mutations are found in ~2–5% of ISS cases and ~70% of Léri-Weill dyschondrosteosis (LWD) cases, characterized by disproportionat...

Background: Patients with 46,XY, DSD are characterized by ambiguous or female external genitalia, caused by incomplete intrauterine masculinization. 5α-reductase type 2 deficiency due to SRD5A2 gene mutations result in inadequate conversion from testosterone to dihydrotestosterone (DHT), and is responsible for incomplete virilization in male patients. Up to date, more than 50 mutations have been reported, however, clinical features are variable and heterogeneous.<p cl...

Background: Basal or unstimulated hormone levels frequently do not provide sufficient diagnostic information in the investigation of endocrine disorders. A range of dynamic or provocative tests are available to assess the dynamic responses of hormones and make necessary diagnoses.Objective and hypotheses: To describe the experiences with dynamic stimulation testing of a Paediatric Endocrine Unit in a developing country.Method: Retr...

Background: GnRH agonist (GnRHa) are able to modify natural course of Central Precocious Puberty (CPP) in girls.Objective and hypotheses: We evaluated the etiology and the effect of GnRHa in Korean CPP boys.Method: Total 29 boys diagnosed for CPP from 2007 to 2012 were included in Ajou University Medical Center. Sellar MRI was performed in 26 of 29 patients (89.7%). CPP was diagnosed on the basis of i) onset evidence of testicular ...