Browsing by Author "Tas, Funda Feryal"

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Abnormal Uterine Bleeding in Adolescent Girls Retrospective Study
(Brieflands, 2025) Ozalkak, Servan; Yildirim, Ruken; Karakaya, Amine Aktar; Tas, Funda Feryal; Oncel, Kahraman; Okur, Nurettin; Ozbek, Mehmet Nuri
Background: Abnormal uterine bleeding (AUB) is the most common reason for gynecology-related hospital admissions in adolescence. Objectives: The present single-center study aimed to evaluate the diagnosis distribution in adolescents with AUB and to compare the clinical features and treatments of patients with hemoglobin levels below and above 10 g/dL. Methods: The present single-center study retrospectively collected demographic and epidemiological data from adolescents aged 10 - 18 years presenting to our institution with a diagnosis of AUB. Patient data were extracted from electronic medical records and analyzed using SPSS software. Descriptive statistics, including frequency, percentage, mean, standard deviation (SD), median, and interquartile range (IQR), were calculated. Patients were classified according to hemoglobin levels (< 10 g/dL as group 1 and >= 10 g/dL as group 2). Results: Among 167 adolescent patients, 35.9% had hemoglobin levels below 10 g/dL. Hospitalization rates were significantly higher in group 1 (86.4%) compared to group 2 (2.8%) (P < 0.001). The most common causes of AUB were anovulation (84.4%) and polycystic ovary syndrome (PCOS) (11.4%). The primary treatments included combined oral contraceptives (COCs) with iron supplementation (45.5%) and iron alone (28.7%). Erythrocyte transfusion (ERT) was performed in 18% of cases, predominantly in group 1. This study is limited by the lack of a standardized quality of life assessment tool for AUB. The single-center design and retrospective data collection may limit the generalizability of the findings and introduce selection bias, respectively. Conclusions: Anovulation and PCOS are the main causes of AUB in adolescents. Patients with hemoglobin levels below 10 g/dL and active bleeding should be evaluated carefully, as ERT may be necessary. A wide differential diagnosis should always be considered when managing adolescent AUB.
Citation - WoS: 2
Citation - Scopus: 1
The Clinical and Laboratory Features of Patients With Triple a Syndrome: a Single-Center Experience in Turkey
(Springer, 2023) Yildirim, Ruken; Unal, Edip; Tekmenuray Unal, Aysel; Tas, Funda Feryal; Ozalkak, Servan; Cayir, Atilla; Ozbek, Mehmet Nuri
Aim Triple-A Syndrome (TAS) is a rare autosomal recessive disorder characterized by adrenal insufficiency, achalasia, and alacrimia. This disorder is caused by mutations in the AAAS gene. The aim of this study is to discuss the clinical, laboratory and molecular genetic analysis results of 12 patients with TAS. Method We evaluated 12 patients from 8 families. Clinical and laboratory data were retrospectively collected from the medical records of the patients in the database for the period 2015-2020. All exons and exon-intron junctions of the AAAS gene were evaluated by next-generation sequencing method. Detected variants were classified according to American Collage of Medical Genetics criteria. Results Alacrimia was found in all patients (100%); achalasia was found in 10 patients (83.3%) and adrenal insufficiency was found in 10 patients (83.3%). In addition, hyperreflexia(6/12), learning disability(5/12), hypernasal speech(5/12), muscle weakness(8/12), delayed walking(7/12), delayed speech(6/12), excessive sweating(7/12), optic atrophy(1/12), epilepsy(1/12), palmoplantar hyperkeratosis(5/12), multiple dental caries(9/12), atrophy of the thenar/hypothenar muscles(4/12) and short stature(4/12) were detected. The DHEA-S levels were measured in 10 patients and were found to be low in 8 of them. In all patients, the sodium and potassium levels were found to be normal. AAAS gene sequencing revealed four previously reported c.1066_1067del (p.Leu356fs*8), c.1432 C > T (p.Arg478*), c.688 C > T (p.Arg230*), and c.1368_1372del (p.Gln456fs*38) variants and two novel homozygous c.1250-1 G > A and c.398_399 + 2del variants in the AAAS gene. Conclusion We detected two novel variants in the AAAS gene. While the classic triad is present in 66.7% of the cases, neurological dysfunction, skin and dental pathologies also occur quite frequently. The earliest and most common finding of TAS is alacrimia. Therefore, adrenal insufficiency should be investigated in all patients with alacrimia and if necessary, genetic analysis should be performed for TAS. In addition, TAS should be followed up with a multidisciplinary approach since it involves many systems.
Citation - WoS: 1
Citation - Scopus: 2
Evaluation and management of neonatal onset hyperinsulinemic hypoglycemia: a single neonatal center experience
(Taylor & Francis, 2023) Bezirganoğlu, Handan; Okur, Nilifer; Feryal Taş, Funda; Çelik, Kıymet; Özbek, Mehmet Nuri; Tas, Funda Feryal
Objectives: To evaluate the clinical characteristics and treatment options of neonates requiring prolonged hospitalization due to persistent hyperinsulinemic hypoglycemia (HH). Methods: This retrospective cohort study included infants >34 weeks of gestation at birth who were born in our hospital between 2018 and 2021, diagnosed with HH, and required diazoxide within the first 28 days of life. The baseline clinical characteristics, age at the time of diagnosis and treatment options in diazoxide resistance cases were recorded. Genetic mutation analysis, if performed, was also included. Results: A total of 32 infants diagnosed with neonatal HH were followed up. Among the cohort, 25 infants were classified as having transient form of HH and seven infants were classified as having congenital hyperinsulinemic hypoglycemia (CHI). Thirty-one percent of the infants had no risk factors. The median birth weight was significantly higher in the CHI group, whereas no differences were found in other baseline characteristics. Patients diagnosed with CHI required higher glucose infusion rate, higher doses, and longer duration of diazoxide treatment than those in the transient HH group. Eight patients were resistant to diazoxide, and six of them required treatment with octreotide and finally sirolimus. Sirolimus prevented the need of pancreatectomy in five of six patients without causing major side effects. Homozygous mutations in the ABCC8 gene were found in four patients with CHI. Conclusions: The risk of persistent neonatal hyperinsulinism should be considered in hypoglycemic neonates particularly located in regions with high rates of consanguinity. Our study demonstrated sirolimus as an effective treatment option in avoiding pancreatectomy in severe cases.