ESPE Abstracts

Background: Although there is considerable literature dealing with the diagnosis, initial management and early complications of meningococcemia, data about late complications is scarce. Growth plates may be influenced permanently by ischemia leading to late orthopedic complications such as leg length discrepancy, angular deformity and distorted body proportion. We present a patient with disproportionate short stature due to late squeal of meningococcemia who was misdiagnosed a...

Background: Irisin is an adipomyokine secreted by many tissues. Because it has known relationships with the energy metabolism and exercise, its relationships with obesity and type 2 diabetes (T2D) are being focused on. Its relationship with type 1 diabetes (T1D) is unknown.Objective and hypotheses: In this study, the relationships between the serum irisin level and the metabolic control were investigated in adolescents with T1D.Met...

Objective: This study aims to reveal clinical, hormonal and ultrasound imaging features of patients treated with leuprolide acetate for diagnosis of precoccious puberty.Design: Retrospective analysis of patients with a diagnosis of central precoccious puberty and treated with leuprolide acetate between January 2008 and January 2013.Patients: 81 girls and two boys with early signs of puberty.Results: There was...

Background: A 5 years and 10 months boy presented with pubic hair, recent penile growth, aggressive behaviour and rapid growth of height. Antenatal, perinatal, and developmental history was unremarkable. There was no family history of precocious puberty. His height and weight were 128 cm (2.24 S.D.) and 25 kg (1.55 S.D.) respectively. Vital signs were normal. He was Tanner 2 for pubic hair and his stretched penis length was 11 cm, right testis vol...

Background: Idiopathic premature adrenarche (PA) in girls refers to the presence of androgenic signs before the age of 8 years in the absence of thelarche. Increased adrenal androgens lead to changes in body composition and transient growth acceleration without effecting final height. Although the association between PA and some components of the metabolic syndrome is well known, total body fat and body composition analysis are not widely studied.Subject...

MODY (Maturity Onset Diabetes of Youth), mitochondrial diabetes, Wolfram syndrome, neonatal diabetes and the group of special syndromes seen due to gene defects that cause insulin resistance are called monogenic diabetes. MODY is an autosomal dominant form of diabetes with a relatively young onset. It constitutes 2-5% of all diabetes cases. The presence of more than one affected family member in extended families has facilitated studies of this type of diabetes. In monogenic d...

Obesity is a common public health problem. Secondary complications are increasing with the increase in the prevalence of obesity. Studies on the effect of obesity on the urinary system in children continue and are limited. In this study, it was aimed to evaluate the relationship between childhood obesity and lower urinary tract dysfunction (LUTD) with metabolic and anthropometric measures. 400 obese children between 6 and 18 years of age who had a body mass index ≥95 per...

Autoimmune polyglandular syndrome (APS), on the other hand, is a cluster of endocrine disorders resulting from immune dysregulation, often accompanied by damage to non-endocrine organs. There are 2 types of APS: type 1 and type 2 (APS-1 and APS-2). Type 2 APS is characterized by the development of organ- and tissue-specific antibodies. In those with Addison's disease, antibodies to the 21-hydroxylase enzyme found in the adrenal cortex are present in more than 90% of patie...

A defect in one of the 5 enzymes related to the cortisol biosynthesis pathway (cholesterol side chain degradation enzyme, 3-beta-hydroxysteroid dehydrogenase, 17-hydroxylase, 21-hydroxylase and 11-hydroxylase) is responsible for the formation of KAH. Congenital Adrenal Hyperplasia (CAH) is seen in newborn babies with a frequency of 1/10,000-16,000. The most common 21 hydroxylase enzyme deficiency. 3-β-hydroxysteroid dehydrogenase (3βHSD) deficiency is a rare form of ...

17β-Hydroxysteroid dehydrogenase type 3 (17β-HSD3) is expressed mostly in the testes and converts the inactive Δ4-androstenedione (A) to testosterone (T). 17β-HSD3 deficiency is a rare autosomal recessive disorder and the most common testosterone biosynthesis defect leading to 46,XY Disorders of Sex Development (DSD). To date, more than 40 mutations of HSD17B3 have been reported. 46,XY patients with 17β-HSD3 deficiency would present with wide variable ...