Person: BAHAR, Semra
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Publication A case of diabetes and deafness with heteroplasmic mutations in the mitochondrial DNT1 gene(2022-09-12) Özgen İ. T.; Bahar S.; Uyanık B.; ÖZGEN, İLKER TOLGA; BAHAR, Semra; UYANIK, BÜLENTPublication Final adult height and bone mineral density of the children who were treated with gonadotropin releasing hormone analogues near the age eight(2022-09-15) Bahar S.; Özgen İ. T.; BAHAR, Semra; ÖZGEN, İLKER TOLGAPublication A novel heterozygous STAT5B variant in a patient with resistant atopic dermatitis and short stature(2022-09-15) Bahar S.; Özgen İ. T.; Uyanık B.; BAHAR, Semra; ÖZGEN, İLKER TOLGA; UYANIK, BÜLENTIntroduction: Growth hormone (GH) exerts its effect through insulin-like growth factor 1 (IGF-I), an intracellular signalling molecule whose production is stimulated by STAT-5b after bind ing to the growth hormone receptor. STAT-5b deficiency, is char acterized by short stature, immune dysregulation and chronic lung disease. And these occur as a result of disruption of the growth hormone axis. Our case is an example of STAT-5b gene mutation, which is a rare disease and it has been defined for the last 10 years. Case: A 12-year-old male patient was admitted to our outpa tient clinic with complaints of short stature and skin rash. He was born 900 gr by cesarean section at 26th gestational week and had a 3-month neonatal intensive care hospitalization history. He was hospitalized with severe acute bronchiolitis attack twice, 1 year and 2.5 years old. He was followed up with diagnosis of atopic derma titis and hyperimmunoglobulin E for the last 3 years. In the family history; his mother’s and father’s height were 150 cm and 175 cm respectively, there was no consanguinity between mother andfather, and he had 2 healthy siblings. Anthropometric measure ments; his height, weight and body mass index were 134 cm (SDS: -1.9), 25.7 kg (SDS: -2.54), and 14.2 kg/m2 (SDS: -2.15) respec tively. The mid parental height SDS of the patient was -1.17. In his physical examination; he had erythematous eczematous lesions around the eyes, cheeks and chin, and xerosis on the hands, promi nent forehead and saddle nose. His testicular volumes were 4/4 ml and pubic hair was tanner stage 1. Laboratory examinations revealed low IGF level (98.7 ng/ml SDS: -1.67) and IGF binding protein 3 (IGFBP3) level (3.75 ng/L SDS: -3.56). Bone age was 8 years-old. GH stimulation tests with L-dopa revealed low basal GH levels and reduced GH response (peak GH of 2.24 ng/ml). Prolactin level was found to be 12.3ug/l. Height velocity was 6 cm per year. A new heterozygous STAT5b mutation (C.1906+1G>A) was detected.Publication A case report of hyperinsulinemic hypoglycemia caused by a heterozygous novel mutation in the insulin receptor gene(2022-09-15) Özgen İ. T.; Bahar S.; Uyanık B.; ÖZGEN, İLKER TOLGA; BAHAR, Semra; UYANIK, BÜLENTIntroduction: Mutations in the insulin receptor (INSR) gene usually progress with insulin resistance and hyperglycemia. However, rare heterozygous INSR gene mutations that cause hyperinsulinemic hypoglycemia (HH) have also been described. A case with hyperinsulinemic hypoglycemia due to a new variant mutation in the INSR gene, is presented. Case: A 13-month-old male patient was referred to us with complaints of contractions in his entire body and low blood sugar in his history. He was born 3900 grams with spontaneous vaginal delivery as term birth. He had a similar seizure history 1 month ago. In family history; There was no consanguinity between father and mother. His father had a growth hormone treatment history and he had iris coloboma. Anthropometric measurements; Height: 78 cm (SDS: 0.24), weight: 12.1 kg (SDS: 1.08), head circumference: 45 cm (SDS: -0.37) was normal. In the physical examination of the patient, anterior fontanel was 0.5*0,5 cm open, elongated penis length was 3,5 cm, testicles were bilaterally palpable, other system examinations were normal. Laboratory values measured in hypo glycemic state (glucose: 35 mg/dL) are given in the table. In addi tion, the patient’s metabolic tests (tandem, blood amino acid, urine organic acid, ammonia) were normal.Hydrocortisone and diazoxide treatment were started simulta neously because the cortisol levels measured at the time of hypo glycemic attack were 3.9 ug/dL (low) and insulin was 7.6 uU/mL. Abdominal ultrasound was requested for the examination of pan creatic anomaly and it was found to be normal. Genetic result showed in INSR NM_000208.2 Exon 20 c.3634G>A p mutation. Anew mutation was detected in Val1212lle. During the follow-up the basal cortisol value measured was 16.2 ug/dL. After this result and genetical diagnosis, hydrocortisone treatment was discontin ued and diazoxide treatment was continued. The patient’s blood sugar is followed closely, and the follow-up continues in terms of conversion to diabetes. Conclusion: In conclusion, heterozygous INSR gene mutation causing hyper insulinemic hypoglycemia was detected in our case. This case is presented because INSR mutations are rare in the eti ology of hyperinsulinism in hypoglycemic patients and also the detected mutation is new.Publication A case report of Pituitary Stalk Interruption Syndrome caused by novel compound heterozygous mutations in the KATNIP gene(2022-09-15) Bahar S.; Özgen İ. T.; Uyanık B.; BAHAR, Semra; ÖZGEN, İLKER TOLGA; UYANIK, BÜLENT