Person: HALİLOĞLU, BELMA
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HALİLOĞLU
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BELMA
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Publication Metadata only Effects of leukemia inhibitory receptor gene mutations on human hypothalamo-pituitary-adrenal function(SPRINGER, 2015) BEREKET, ABDULLAH; Guran, Tulay; Guran, Omer; Paketci, Cem; Kipoglu, Osman; Firat, Irfan; Turan, Serap; Atay, Zeynep; Haliloglu, Belma; Bereket, AbdullahStuve-Wiedemann syndrome (STWS) (MIM #601559) is a rare autosomal recessive disorder caused by mutations in the leukemia inhibitory factor receptor (LIFR) gene. STWS has a diverse range of clinical features involving hematopoietic, skeletal, neuronal and immune systems. STWS manifests a high mortality due to increased risk of sudden death. Heterodimerization of the LIFR mediates leukemia inhibitory factor (LIF) signalling through the intracellular Janus kinase (JAK)/STAT3 signalling cascade. The LIF/LIFR system is highly expressed in and regulates the hypothalamo-pituitary-adrenal (HPA) axis. HPA function was investigated in three STWS patients to characterise consequences of impaired LIF/LIFR signalling on adrenal function. Six genetically proven STWS patients from four unrelated Turkish families were included in the study. Sudden death occurred in three before 2 years of age. Basal adrenal function tests were performed by measurement of early morning serum cortisol and plasma ACTH concentrations on at least two different occasions. Low dose synacthen stimulation test and glucagon stimulation tests were performed to explore adrenal function in three patients who survived. All patients carried the same LIFR (p.Arg692X) mutation. Our oldest patient had attenuated morning serum cortisol and plasma ACTH levels at repeated measurements. Two of three patients had attenuated cortisol response (< 18 mu g/dl) to glucagon, one of whom also had borderline cortisol response to low dose (1 mu g) ACTH stimulation consistent with central adrenal insufficiency. STWS patients may develop central adrenal insufficiency due to impaired LIF/LIFR signalling. LIF/LIFR system plays a role in human HPA axis regulation.Publication Metadata only Change of menarcheal age in schoolgirls living in Istanbul over the last 12 years(2022-09-01) GÜRAN, TÜLAY; GÜRPINAR TOSUN, BUŞRA; HALİLOĞLU, BELMA; DEMİRCİOĞLU, SERAP; HIDIROĞLU, SEYHAN; BEREKET, ABDULLAH; GÜRAN T., Alir F., Arslan Y. T. , Molla G., Sahin B., Sayar M. E. , Atay Z., Helvacioglu D., GÜRPINAR TOSUN B., HALİLOĞLU B., et al.Publication Metadata only Premature Pubarche, Hyperinsulinemia and Hypothyroxinemia: Novel Manifestations of Congenital Portosystemic Shunts (Abernethy Malformation) in Children(KARGER, 2015) BEREKET, ABDULLAH; Bas, Serpil; Guran, Tulay; Atay, Zeynep; Haliloglu, Belma; Abali, Saygin; Turan, Serap; Bereket, AbdullahCongenital portosystemic shunt (CPSS) is persistence of an anomalous embryological connection of the portal vein with a large vein of the vena cava system. Clinical presentations include neonatal cholestasis, liver tumors, and encephalopathy, but can be variable in timing and symptomatology. We report 2 girls who presented 10 years apart with the same complaint of early pubarche at age 7 years, with inappropriately low DHEAS levels. In addition to hyperandrogenemia (elevated testosterone and androstenedione) and advanced bone age, both had hyperinsulinemia, and hypothyroxinemia. The 2nd case also had symptomatic hypoglycemia. Presentation of CPSS with this combination of findings in prepubertal children has not been reported previously. With further investigations, we proposed novel mechanisms explaining these manifestations. Hyperandrogenemia is caused by decreased hepatic sulfation of DHEA to less active DHEAS due to shunting of DHEA to systemic circulation. Elevated DHEA is then used for synthesis of more potent androgens. Shunting of postabsorbtive glucose from portal to systemic circulation causes early hyperglycemia leading to exaggerated insulin secretion. Insulin bypasses the hepatic metabolism directly entering into the systemic circulation, which results in hyperinsulinemia, then in turn causes late hypoglycemia. Finally, hypothyroxinemia was linked to thyroxin-binding globulin deficiency, which has not been reported in CPSS. (C) 2015 S. Karger AG, BaselPublication Metadata only Challenges in the management of a 7 years old child with thyrotropin-secreting pituitary adenoma and the review of the literature(2023-01-01) KIRKGÖZ, TARIK; GÜRPINAR TOSUN, BUŞRA; ELTAN, MEHMET; HALİLOĞLU, BELMA; KAYGUSUZ, SARE BETÜL; SEVEN MENEVŞE, TUBA; BOZKURT, SÜHEYLA; ÖNEŞ, TUNÇ; GÜRAN, TÜLAY; DAĞÇINAR, ADNAN; BEREKET, ABDULLAH; DEMİRCİOĞLU, SERAP; KIRKGÖZ T., Abali S., Seker A., GÜRPINAR TOSUN B., ELTAN M., Helvacioglu D., HALİLOĞLU B., KAYGUSUZ S. B., Yavas Abali Z., SEVEN MENEVŞE T., et al.Introduction: Thyrotropin-producing pituitary adenoma (TSHoma) is a very rare disease, representing less than 1% of the pituitary tumours, present with elevated thyroid hormones and normal/high TSH concentrations. Case Presentation: A 7-year-old boy with nervousness was referred by his psychiatrist for elevated free T4, T3 and TSH levels. Initial evaluation revealed an elevated -subunit.Pituitary MRI demonstrated a macroadenoma. The patient underwent a trans-sphenoidal tumour resection (TSS) which showed positive immunohistochemical staining for TSH, growth hormone, and prolactin in tumoral tissue. Euthyroidism was achieved for one year after TSS, then, recurrence of tumour with elevated TSH and thyroid hormone levels necessitated a re-operation with TSS followed by gamma-knife radiosurgery. The euthyroid state was achieved and lasted for 2.5 years this time, but, due to the recurrence, medical treatment had been commenced with cabergoline and octreotide. Euthyroidism was maintained for the last 4 years on monthly octreotide treatment. A repeat MRI demonstrated no pituitary mass but a mass in the sphenoidal sinus had been detected. Removal of this mass by surgery did not achieve euthyroidism. 68Ga-DOTA-TATE PET/CT showed residual tissue extending from the pituitary region to the sphenoid sinus.The patient\"s bone age was advanced 2 years at diagnosis which became 4 years in one year after the diagnosis and remained so throughout follow-up, leading to a final height of -3.3 SDS below his target height at the age of 16 years. Conclusion: The diagnosis, treatment, and follow-up of TSHomas are challenging and short stature due to accelerated bone maturation is a complication of paediatric TSHomas.Publication Metadata only Infantile loss of teeth: odontohypophosphatasia or childhood hypophosphatasia(SPRINGER, 2013) BEREKET, ABDULLAH; Haliloglu, Belma; Guran, Tulay; Atay, Zeynep; Abali, Saygin; Mornet, Etienne; Bereket, Abdullah; Turan, SerapHypophosphatasia is a hereditary disorder characterized by a deficiency of serum and bone alkaline phosphatase (ALP) activity and defective skeletal mineralization. It is caused by a loss of function mutations in the tissue nonspecific ALP gene (TNSALP) encoding the tissue nonspecific alkaline phosphatase. A 4-year-and-8-month-old girl presented with premature exfoliation of the anterior incisors and canines. Very low ALP level (27 IU/ml) suggested the diagnosis of hypophosphatasia, which was supported by an elevated urine phosphoethanolamine/Cr of 84 mu mol/mmol (reference range, < 25 mu mol/mmol) and serum pyridoxal-5'-phosphate of 393 mu g/L (reference range, 3.6-18 mu g/L). The phenotype of the patient was subsequently classified as mild childhood hypophosphatasia. TNSALP gene sequencing revealed the homozygous c.382 G > A (p.V128M) mutation. This mutation was previously observed in a series of patients with severe hypophosphatasia, pointing out the possible role of other genetic or environmental factors in the modulation of the hypophosphatasia phenotype.Publication Metadata only Hypothalamic obesity in children: pathophysiology to clinical management(WALTER DE GRUYTER GMBH, 2015) BEREKET, ABDULLAH; Haliloglu, Belma; Bereket, AbdullahHypothalamic obesity (HyOb) is a complex neuroendocrine disorder caused by damage to the hypothalamus, which results in disruption of energy regulation. The key hypothalamic areas of energy regulation are the ARC (arcuate nucleus), the VMH (ventromedial hypothalamus), the PVN (paraventriculer nuclei) and the LHA (lateral hypothalamic area). These pathways can be disrupted mechanically by hypothalamic tumors, neurosurgery, inflammatory disorders, radiotherapy and trauma or functionally as such seen in genetic diseases. Rapid weight gain and severe obesity are the most striking features of HyOb and caused by hyperphagia, reduced basal metabolic rate (BMR) and decreased physical activity. HyOb is usually unresponsive to diet and exercise. Although, GLP-1 and its anologs seem to be a new agent, there is still no curative treatment. Thus, prevention is of prime importance and the clinicians should be alert and vigilant in patients at risk for development of HyOb.Publication Open Access GCK gene mutations are a common cause of childhood-onset MODY (maturity-onset diabetes of the young) in Turkey(WILEY-BLACKWELL, 2016-09) BEREKET, ABDULLAH; Haliloglu, Belma; Hysenaj, Gerald; Atay, Zeynep; Guran, Tulay; Abali, Saygin; Turan, Serap; Bereket, Abdullah; Ellard, SianObjectiveInactivating heterozygous mutations in the GCK gene are a common cause of MODY and result in mild fasting hyperglycaemia, which does not require treatment. We aimed to identify the frequency, clinical and molecular features of GCK mutations in a Turkish paediatric cohort. Design and PatientsFifty-four unrelated probands were selected based on the following criteria: age of diagnosis 17years, family history of diabetes in at least two generations, anti-GAD/ICA negative, BMI<95.p and follow-up with diet, oral antidiabetic drug or low-dose insulin treatment (05U/kg/d). A MODY probability score () was calculated and 21 patients with a score 75%, HbA1c levels 75% (585mmol/mol) and fasting blood glucose (FBG) levels 99-145mg/dl (55-80mmol/l) were selected for Sanger sequencing of the GCK gene. Targeted next-generation sequencing for all known monogenic diabetes genes was undertaken for any patient without a GCK gene mutation. ResultsGCK gene mutations (pathogenic or likely pathogenic variants) and a novel intronic variant of uncertain significance (c.208+3A>T) were identified in 13/54 probands (24%). Twelve of these patients had a MODY probability score 75%. FBG level and 2-h glucose level in OGTT were 12314mg/dl (68 +/- 07mmol/l) (107-157mg/dl) and 181 +/- 30mg/dl (101 +/- 16mmol/l) (136-247mg/dl), respectively. Average of glucose increment in OGTT was 58 +/- 27mg/dl (32 +/- 15mmol/l) (19-120mg/dl), and mean HbA1c level was 65 +/- 05% (475 +/- 55mmol/mol) (59-76%). Five novel missense mutations were identified (p.F123S, p.L58P, p.G246A, p.F419C, and p.S151C). Two patients treated with low-dose insulin before the molecular analysis were able to stop treatment. ConclusionsApproximately 1 in 4 MODY cases in this Turkish paediatric cohort have a GCK mutation. Selection of patients for GCK gene analysis using the MODY probability score was an effective way of identifying most (11/12) patients with a GCK mutation.Publication Metadata only Novel homozygous inactivating mutation of the calcium-sensing receptor gene (CASR) in neonatal severe hyperparathyroidism-lack of effect of cinacalcet(ELSEVIER SCIENCE INC, 2014) BEREKET, ABDULLAH; Atay, Zeynep; Bereket, Abdullah; Haliloglu, Belma; Abali, Saygin; Ozdogan, Tutku; Altuncu, Emel; Canaff, Lucie; Vilaca, Tatiane; Wong, Betty Y. L.; Cole, David E. C.; Hendy, Geoffrey N.; Turan, SerapBackground: NSHPT is a life-threatening disorder caused by homozygous inactivating calcium-sensing receptor (CASR) mutations. In some cases, the CaSR allosteric activator, cinacalcet, may reduce serum PTH and calcium levels, but surgery is the treatment of choice. Objective: To describe a case of NSHPT unresponsive to cinacalcet. Patient and Results: A 23-day-old girl was admitted with hypercakemia, hypotonia, bell-shaped chest and respiratory distress. The parents were first-degree cousins once removed. Serum Ca was 4.75 mmol/l (N: 2.10-2.62), P: 0.83 mmol/l (1.55-2.64), PTH: 1096 pg/ml (9-52) and urinary Ca/Cr ratio: 0.5 mg/mg. First, calcitonin was given (10 IU/kg x 4/day), and then 2 days later, pamidronate (0.5 mg/kg) for 2 days. Doses of cinacalcet were given daily from day 28 of life starting at 30 mg/m(2) and increasing to 90 mg/m(2) on day 43. On day 33, 6 days after pamidronate, serum Ca levels had fallen to 2.5 mmol/l but, thereafter, rose to 5 mmol/l despite the cinacalcet Total parathyroidectomy was performed at day 45. Hungry bone disease after surgery required daily Ca replacement and calcitriol for 18 days. At 3 months, the girl was mildly hypercalcemic, with no supplementation, and at 6 months, she developed hypocalcemia and has since been maintained on Ca and calcitriol. By CASR mutation analysis, the infant was homozygous and both parents heterozygous for a deletion-frameshift mutation. Conclusion: The predicted nonfunctional CaSR is consistent with lack of response to cinacalcet, but total parathyroidectomy was successful. An empiric trial of the drug and/or prompt mutation testing should help minimize the period of unnecessary pharmacotherapy. (C) 2014 Elsevier Inc. All rights reserved.Publication Metadata only Diagnostic Features and Risk Factors for Childhood Thyroid Cancers(2022-09-01) ŞAHİN, PINAR; GÜRPINAR TOSUN, BUŞRA; YUMUŞAKHUYLU, ALİ CEMAL; GÜRAN, TÜLAY; HALİLOĞLU, BELMA; OYSU, ÇAĞATAY; DEMİRCİOĞLU, SERAP; BEREKET, ABDULLAH; ŞAHİN P., GÜRPINAR TOSUN B., YUMUŞAKHUYLU A. C. , GÜRAN T., Helvacioglu D., Abali Z. Y. , HALİLOĞLU B., OYSU Ç., BEREKET A., DEMİRCİOĞLU S.Publication Open Access Risk factors for mortality caused by hypothalamic obesity in children with hypothalamic tumours(WILEY-BLACKWELL, 2016-10) BEREKET, ABDULLAH; Haliloglu, B.; Atay, Z.; Guran, T.; Abali, S.; Bas, S.; Turan, S.; Bereket, A.BackgroundHypothalamic obesity (HyOb) is a common complication of childhood hypothalamic tumours. Patients with HyOb probably have a higher mortality rate than those with other types of obesity due in many cases to obstructive sleep apnoea/hypoventilation. ObjectivesTo identify predictive factors for mortality caused by HyOb in children. MethodsTwenty children with HyOb secondary to hypothalamic tumours that were followed-up for 3 years and aged <15 years at diagnosis, and received supraphysiological glucocorticoid treatment for 1 month. ResultsMean age at diagnosis was 6.363.60 years. Mean body mass index (BMI) Standard deviation of the samples (SDS) increased from 0.77 +/- 1.26 to 2.66 +/- 1.45 during the first 6 months, but slowed from month 6-12 (2.73 +/- 1.35). BMI SDS at 0-6 months was significantly higher in patients aged <6 years at diagnosis than in those aged >6 years at diagnosis (3.71 +/- 1.96 vs. 0.83 +/- 0.73, P<0.001). Maximum BMI SDS was also significantly higher in the younger group (3.88 +/- 1.39 vs. 2.79 +/- 0.64, P<0.05). In all, four patients died and the mortality rate was significantly higher in the patients with a further increase in BMI SDS>1 SDS after 6 months of therapy (RR: 8.4, P<0.05). Both overall mortality and obesity-related mortality rates were higher in the patients aged <6 years at diagnosis (4.5-fold, 7.2-fold higher, respectively, P>0.05). The mortality rate was also 3.7-fold higher in the patients with a maximum BMI SDS3 at any time during the first 3 years after therapy(P>0.05). ConclusionsAn increase in BMI SDS after 6 months of therapy was observed to be a risk factor for mortality caused by HyOb. In addition, age <6 years at diagnosis and a maximum BMI SDS3 were associated with a higher mortality rate, indicating that earlier and more aggressive treatment of obesity is required.
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