ESPE Abstracts

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...

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 ...

Background: Diagnosis of polycystic ovary syndrome (PCOS) in the adolescent is difficult due to high background rate of menstrual irregularity, high prevalence of polycystic morphology and hyper and rogenic features in this population. Also late onset congenital adrenal hyperplasia (LOCAH) mimics PCOS in this period. It is important to distinguish these entities because of the differences in their therapy. The study aimed to find out the frequency of LOCAH in patients who diag...

Background: Obesity has been defined as ‘abnormal or excessive fat accumulation that may impair health’ by World Health Organization.Objective and hypotheses: Although the role of oxidative stress in obesity has been interest of subject in recent studies, comprehensive studies evaluating parameters of oxidant/antioxidant status in children are limited. Moreover, there has been an increasing focus on the relationship between obesity and thyroid ...

Background: Pseudohypoaldosteronism (PHA) is a disorder caused by aldosterone resistance with impaired sodium reabsorption and potassium excretion from the body. PHA is subdivided into primary (genetic) and secondary (transient) forms. Primary PHA is caused by mutations in genes encoding epithelial sodium channel or mineralocorticoid receptors. The secondary PHA may occur due to urinary tract malformations, urinary tract infections (UTI), drugs, etc. We present here two cases ...

Background: Peripheral precocious puberty (GnRH independed): precocious development of secondary sexual characteristics may also be caused by mechanisms that do not involve activation of pulsatile GnRH secretion. Familial male-limited precocious puberty, also known testotoxicosis is a rare dominant form of gonadotropin independent precocity caused by constitutively activating mutations of the human LH choriogonadotropin receptor (LHCGR). If do not treat with appropriate drugs ...

Background: Human health might be negatively affected by chemicals named as endocrine disrupters. Researchers showed that phthalates (bis-(2-ethylhexyl) phthalate (DEHP), mono-(2-ethylhexyl) phthalate (MEHP)) and bisphenol A (BPA) have an anti-androgenic and/or estrogenic effects. These endocrine disruptors are accused in occurrence and/or possible increase in unusual early puberty in girls in recent years.Objective and hypotheses: The aim of th...

Background and objective: 21alpha-hydroxylase deficiency congenital adrenal hyperplasia (21OHD-CAH) is the most common etiology of inherited primary adrenal insufficiency (PAI) in children. Neonatal CAH screening is important for early diagnosis of salt-wasting 21OHD and other virilizing CAH (11beta-hydroxylase, 3beta-hydroxysteroid dehydrogenase deficiencies) and for avoiding mortality, especially in salt-wasting CAH. Neonatal CAH screening has become nationw...