hrp0089p3-p041 | Bone, Growth Plate & Mineral Metabolism P3 | ESPE2018

SHOX Gene Deletion Screening by FISH in Children with Short Stature and Characteristics of Patients

Kurnaz Erdal , Savaş-Erdeve Şenay , Cetinkaya Semra , Aycan Zehra

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...

hrp0089p2-p400 | Thyroid P2 | ESPE2018

Follow-up in Children with Non-obese and Non-autoimmune Subclinical Hypothyroidism

Ergin Zeynep , Savas-Erdeve Senay , Kurnaz Erdal , Cetinkaya Semra , Aycan Zehra

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...

hrp0086p1-p358 | Gonads &amp; DSD P1 | ESPE2016

Do the Anti-Mullerian Hormone Levels of Adolescents with Polycystic Ovarian Syndrome (PCOS), Those Who Are at Risk for Developing PCOS, and Those Who Exhibit Isolated Oligomenorrhea Differ from those of Adolescents with Normal Menstrual Cycles?

Savas-Erdeve Senay , Keskin Meliksah , Sagsak Elif , Cenesiz Funda , Cetinkaya Semra , Aycan Zehra

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: ...

hrp0086p2-p760 | Pituitary and Neuroendocrinology P2 | ESPE2016

Is Amh Level Diagnostic for Premature Telarche, Premature Adrenarche and Central Precocious Puberty?

Savas-Erdeve Senay , Sagsak Elif , Keskin Meliksah , Cetinkaya Semra , Aycan Zehra

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: ...

hrp0082p2-d1-532 | Puberty and Neuroendocrinology | ESPE2014

Evaluation of the Free Androgen Index in Adolesent Females Diagnosed with Obesity, Hirsutism, and PCOS

Sagsak Elif , Aycan Zehra , Keskin Meliksah , Erdeve Senay Savas , Cenesiz Funda , Ocal Fatma Doga , Cetinkaya Semra

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...

hrp0082p2-d2-607 | Thyroid (1) | ESPE2014

Premature Menarche Associated with Hashimoto Thyroiditis at 2 Years 9 Months: Case Report

Keskin Meliksah , Cetinkaya Semra , Sagsak Elif , Aycan Zehra , Erdeve Senay Savas

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...

hrp0082p3-d2-677 | Bone (1) | ESPE2014

Risk Factors Affecting the Development of Nephrocalcinosis, the Most Common Complication of Hypophosphatemic Rickets

Keskin Meliksah , Erdeve Senay SavaS , Sagsak Elif , Aycan Zehra , Cetinkaya Semra

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%...

hrp0082p3-d1-958 | Sex Development | ESPE2014

17βHSD-3 Enzyme Deficiency in Newborn Due to a Novel Mutation in HSD17B3 Gene

Sagsak Elif , Aycan Zehra , Erdeve Senay Savas , Keskin Meliksah , Cetinkaya Semra , Karaer Kadri

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...

hrp0082p3-d2-994 | Thyroid (1) | ESPE2014

The Evaluation of Transient Hypothyroidism in Patients Diagnosed with Congenital Hypothyroidism

Kendirci Havva Nur Peltek , Aycan Zehra , Sagsak Elif , Keskin Meliksah , Cetinkaya Semra

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...

hrp0084p3-999 | Gonads | ESPE2015

Sertoli Cell Tumour in a Case of Androgen Insensitivity Syndrome

Erdeve Senay Savas , Aycan Zehra , Keskin Meliksah , Cetinkaya Semra , Karaman Ayse , Apaydin Sema , Cakmakci Emin

Introduction: Complete androgen insensitivity syndrome (CAIS) is a sexual development disorder due to mutations that cause function loss in androgen receptors in 46, XY individuals. The risk of malignancy development until the age of 25 years in CAIS is 5–10%. We present a CAIS case where a Sertoli cell tumour was found, together with the USG and MR findings.Case: A 17-year-old female presented to our department complaining of amenorrhoea. She had a...