ESPE Abstracts

Introduction: Differential diagnosis should include congenital adrenal hyperplasia (CAH) in premature adrenarche patients. Clinically, it is possible to diagnose late onset and simple virilisation CAH caused by 21 hydroxylase deficiency because the criteria are better defined and genetic tests are widely available. But especially late onset 11 Beta hydroxylase deficiency can be very difficult to diagnose because the diagbostic criteria are not well defined and...

Achieving optimal metabolic control can be extremely challenging in some children and adolescents with T1DM. The adherence to multiple injections/day is among the leading causes of suboptimal control. Recently insulin degludec/aspart co-formulation (70%IDeg+30%IAsp: IDegAsp) has become available. Because of the longer-duration of IDeg, and retained individual pharmacokinetics of IDeg and IAsp, we wanted to test insulin IDegAsp's efficacy in our patients with po...

Introduction: Increased cytokine release, impaired antioxidation and reactive oxygen species (ROS) have been shown in β-cells in pathogenesis of T1DM. Increased ROS leads to formation of covalent bonds between the sulfur atoms, leading to disulphide conversion. Displacement to disulphide form of this thiol/disulphide balance starts the oxidative damage. This study evaluates the thiol/disulphide balance in children with T1DM.Material...

Objective: Congenital isolated ACTH deficiency (IAD) is a rare autosomal recessive disorder that is characterised by low levels of plasma ACTH and cortisol with normal pituitary structure and hormones. Clinical presentation can occur in the neonatal period, as well as later in childhood. Here, we report a patient with IAD due to a novel TPIT mutation.Case: A 48/12 years old girl presented with loss of concioussness and found to be hypoglycemic...

Objective: Antley-Bixler syndrome Type 1 (ABS1) is a rare form of craniosynostosis characterized by multiple dysmorphic features, radio-humeral synostosis and urogenital abnormalities due to P450 oxidoreductase (POR) gene mutations. ABS is also associated with adrenal and gonadal failure which are sometimes underrecognized due to predominance of skeletal findings in various clinics. We report a female patient with very characteristic skeletal and facial features of AB...

Background: Short stature homeobox-containing (SHOX) gene that strongly affects height. Due to high prevalence of SHOX gene mutations, in all children with unexplained short stature should be investigated to benefit from early growth hormone (GH) treatment. The aim of this clinical study was to determine the rate of SHOX haploinsufficiency in short stature patients and describe their anthropometric measurements.Methods: Between...

Introduction: Subclinical hypothyroidism is a form of thyroid dysfunction in which TSH level is high while serum free thyroxin (fT4) and free triiodothyronine (fT3) are within normal reference range. In this study, it was aimed to investigate effects of subclinical hypothyroidism on anthropometric characteristics, blood pressure, glucose and lipid metabolism by evaluating course of subclinical hypothyroidism during follow-up without treatment.<p class...

Background: An elevated anti-Müllerian hormone (AMH) level might serve as a noninvasive screening or diagnostic test for PCOS in adolescents.Objective and hypotheses: We explored whether the AMH levels of adolescents with PCOS, ‘at-risk-of-PCOS’, and isolated oligomenorrhea, differed from those of adolescents with normal menstrual cycles, and we identified an AMH level that was potentially diagnostic of PCOS.Method: ...

Background: Precocious puberty has a complex and polygenic etiology. To describe genetic factors affecting onset and regulation of puberty and pathophysiology of precocious puberty, further studies are needed. Although, it is reported that ACTH receptor MC4R has impact on premature adrenarche, MC2R is expressed in the adrenal cortex and has a major role on the control of hypothalamo-pituitary-adrenal cortex. Melanocortin signaling system is reported to have l...

Background: Antimüllerian hormone (AMH) is produced by granulosa cells surrounding follicles. There are limited studies about the change of AMH levels at the pubertal onset.Objective and hypotheses: The aim of this study was to identify whether AMH levels could be diagnostic for central precocious puberty (CPP), premature thelarche and premature adrenarche (PA) and to investigate the factors influencing AMH regulation.Method: ...