hrp0082p2-d1-451 | Growth | ESPE2014

Eleven Years of Letrozole Treatment in a Child with 11-β Hydroxylase Deficiency: Effect on Bone Age and Height Prognosis

Bereket Abdullah , Atay Zeynep , Guran Tulay , Haliloglu Belma , Abali Saygin , Bas Serpil , Turan Serap

Background: Aromatase inhibitors (AI) are being used in clinical trials in children related to peripheral precocious puberty, and idiopathic short stature to improve height prognosis.Case report: A 2 11/12 year-old boy was referred to our center for evaluation of penile enlargement and pubic hair development. Physical examination revealed a well-developed muscular boy with a body weight of 22 kg (>97p), height of 110.1 cm (>97p), with ...

hrp0082p2-d1-519 | Pituitary | ESPE2014

Hyperthyroidism Due to TSH Secreting Pituitary Adenoma in a 7-Year-Old Boy

Abali Saygin , Atay Zeynep , Haliloglu Belma , Guran Tulay , Bereket Abdullah , Turan Serap

Background: Pituitary adenomas in childhood are 2–6% of all surgically treated pituitary adenomas at all ages. It has been estimated that TSH secretion is rare (<1% of all pituitary adenomas). Therefore, TSH secreting adenoma is very rare in childhood. Here we present the youngest patient with TSH secreting adenoma.Case: A 7-year-old boy was referred to our clinic with thyroid dysfunction by the psychiatry clinic, during his evaluation of hypera...

hrp0082p3-d2-779 | Fat Metabolism &amp; Obesity (1) | ESPE2014

Younger Age and BMI >3SD are Risk Factors for Mortality in Children with Hypothalamic Obesity

Haliloglu Belma , Turan Serap , Atay Zeynep , Guran Tulay , Abali Saygin , Bas Serpil , Bereket Abdullah

Background: Hypothalamic obesity is the most flagitious endocrinologic problem following surgical intervention for childhood brain tumors. Thus, recognition of this condition and identification of risk factors for mortality is important.Objective and hypotheses: In this study, we have shared our single center experience in obesity-related mortality in children with hypothalamic obesity.Method: We retrospectively analyzed 20 patient...

hrp0082p3-d1-930 | Puberty and Neuroendocrinology | ESPE2014

Final Height in Girls with Idiopathic Central Precocious Puberty Treated with GNRH Analog: Comparison with Untreated Controls

Atay Zeynep , Abali Saygin , Guran Tulay , Haliloglu Belma , Bas Serpil , Turan Serap , Bereket Abdullah

Background: Studies evaluating the gain in final height in patients with idiopathic central precocious puberty (ICPP) report variable outcomes and mostly lack comparison with untreated controls.Objective and hypotheses: To compare the final height of ICPP patients treated with GnRH analog with and untreated control group.Method: 48 girls with ICPP treated with GnRH analog and 52 untreated girls with ICCP (due to late referral or re...

hrp0084p3-969 | GH &amp; IGF | ESPE2015

Evaluating First Year Response and Final Height to Growth Hormone Treatment in Growth Hormone Deficiency Based on Peak GH Levels on Testing

Abali Saygin , Bas Serpil , Akbarzade Azad , Atay Zeynep , Haliloglu Belma , Guran Tulay , Turan Serap , Bereket Abdullah

Background: Diagnosis of GH deficiency (GHD) is a complicated issue especially in isolated GH deficiency. Auxological evaluation, IGFI, IGFBP3 levels and GH response to provocative testing are all considered in the diagnosis. However, cut-off values for GH levels at stimulation tests are controversial. We aimed to evaluate the response to rhGH treatment in patients with different GH peak levels in stimulation test.Objective: We aimed to evaluate the resp...

hrp0084p3-975 | GH &amp; IGF | ESPE2015

Factors Effecting Response to Growth Hormone Treatment in Children with Turner Syndrome

Bas Serpil , Abali Saygin , Atay Zeynep , Haliloglu Belma , Gurbanov Ziya , Guran Tulay , Bereket Abdullah , Turan Serap

Background: Short stature is the most common presenting symptom in Turner Syndrome (TS). GH treatment helps alleviating short stature in TS, although response to treatment varies significantly.Objective and hypotheses: We aimed to evaluate the response to GH treatment and factors affecting this response in children with TS.Method: Forty-nine patients with TS diagnosed by cytogenetic analysis and who had been followed minimum of 1-y...

hrp0094p1-78 | Fetal Endocrinology and Multisystem Disorders A | ESPE2021

Hyperinsulinemic hypoglycemia due to biallelic mutations in the DNAJC3 gene

Gurpinar Tosun Busra , Menevse Tuba Seven , Esen Nisa , Turan Serap , Yesilyurt Ahmet , Guran Tulay , Bereket Abdullah ,

Background: DNAJC3 is an endoplasmic reticulum (ER) co-chaperone involved in folding/processing of secretory and transmembrane proteins. The defect in the ER co-chaperone proteins impairs adaptive ER responses and leads to apoptosis, impairment of organ function with multisystemic involvement. Biallelic mutations in the DNAJC3, described in a limited number of cases cause multiple endocrine dysfunction and neurodegeneration of nervous system.<p cl...

hrp0094p1-102 | Adrenal B | ESPE2021

Correlation of 11-oxygenated C19 androgens with the clinical and biochemical characteristics in premature adrenarche

Yavas Abali Zehra , Eltan Mehmet , Helvacioglu Didem , Yaman Ali , Turan Serap , Bereket Abdullah , Guran Tulay ,

Background: Premature adrenarche (PA) is defined as the appearance of pubic and/or axillary hair in girls younger than 8 years old and caused by the rise in adrenal androgen production including dehydroepiandrosterone (DHEA), dehydroepiandrosterone sulfate (DHEAS), and androstenedione (A4). DHEAS≥40 µg/dL is accepted as the biochemical marker of adrenarche. However, adrenals also produce 11-oxygenated C19 androgens such as 11β-hydroxyandrostene...

hrp0094p2-432 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

46,XY DSD due to biallelic DHX37 gene mutations

Eltan Mehmet , Helvacioglu Didem , Ates Esra Arslan , Abali Zehra Yavas , Turan Serap , Bereket Abdullah , Guran Tulay

Background: DEAH-box protein DHX37, encodes an RNA helicase, is involved in ribosome biogenesis. Monoallelic mutations in DHX37 gene have recently been identified in 46,XY differences/disorders of sex development (DSD) patients with nonsyndromic gonadal dysgenesis as well as testicular regression, while biallelic mutations have been associated with microcephaly and structural brain abnormalities. Here, we present a patient with penoscrotal hypospadias and bil...

hrp0094p2-48 | Adrenals and HPA Axis | ESPE2021

Coexistence of Adrenal Insufficiency and Hypergonadotropic Hypogonadism: P450scc Deficiency

Şakar Merve , Savaş Erdeve Şenay , Guran Tulay , Aycan Zehra , Cetinkaya Semra ,

Introduction: Steroid hormone biosynthesis is initiated by the cholesterol side-chain cleavage enzyme (P450scc), which converts cholesterol to pregnenolone, the precursor of all steroid hormones. This enzyme is encoded by the CYP11A1 gene and is responsible for glucocorticoid, mineralocorticoid and sex steroid synthesis in the adrenal glands, gonads and placenta. Early or late onset adrenal insufficiency, 46, XY sex development disorder, and hypergonadotropic ...