ESPE Abstracts

Background: Prohormone convertase is an enzyme that converts many biologically inactive prohormones into biologically active peptides. Its deficiency is characterized by deficiency of variable levels in all the hormone systems. In relation to this, postprandial hypoglycemia has been reported but, a case of prohormone convertase deficiency presenting with a diagnosis Type 2 diabetes mellitus has not been previously reported.Case p...

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: 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: ...

Background: It is difficult to define the laboratory finding of hyperandrogenism and associate it with clinical findings in children and adolescents. Androgen levels can be high in obesity, hirsutism, and PCOS. The free androgen index (FAI) is a simple ratio used to evaluate the biologically active testosteroneObjective and hypotheses: Our aim was to determine the FAI in adolescent females and to evaluated how this index is influenced in adolescents diag...

Background: Primary hypothyroidism is frequently associated with delayed puberty. However, precocious puberty is known to occur in some rare cases of hypothyroidism untreated for a long time. Differently from the cases suffering from precocious puberty due to other causes, linear growth and bone age are retarded in children developing precocious puberty associated with hypothyroidism. There are no definite data about the incidence of precocious puberty associated with hypothyr...

Background: Hypophosphatemic rickets is a clinical picture with inadequate bone mineralization that develops following renal phosphate loss. One of the most common complications in this group of patients is nephrocalcinosis. However, the mechanisms causing nephrocalcinosis are not clear.Objective and hypotheses: The aim of our study was to define the risk factors affecting the development of nephrocalcinosis, which is reported to be seen at a rate of 50%...

Background: 17β-Hydroxysteroid dehyrogenase type 3 (17βHSD-3) deficiency is an autosomal recessive form of 46,XY disorder of sex development (DSD). 17βHSD-3 is present almost exclusively in the testes and converts androstenedione to testosterone. The diagnosis can be easily missed in early childhood as the clinical presentation may be subtle. The most frequent presentation of 17βHSD-3 deficiency is a 46,XY individual with female external genitalia, labial f...

Background: Congenital hypothyroidism (CH) is divided into two main groups as ‘permanent’ and ‘transient’. Diagnosis of transient hypothyroidism is important to avoid lifelong unnecessary therapy with its possible side effects.Objective and hypotheses: We aimed to determine the rate of transient and permanent congenital hypothyroidism of the newborns referred to our clinic from the neonatal screening program in this study.</st...