ACTA ENDOCRINOLOGICA (BUC)

Thyrotoxic hypokalemic periodic paralysis (TPP) is a disorder leading to hypokalemia and muscle weakness. It mainly affects the Asian population, and it is rare in the Balkan and Caucasian people. We describe a case of a 34 year-old male presenting with TPP. To our knowledge, this case is the third Turkish patient diagnosed as TPP in the English medical literature. He was admitted to the Emergency Department (ED) with generalized weakness. Initial laboratory analysis showed that serum potassium was 1.6 mmol/L. His serum potassium was normalized after intravenous administration of potassium chloride (KCl) of 80 mmol over 4 h and 40 mg of propranolol administered orally, and then his generalized weakness was recovered. Thyrotoxicosis was treated with propylthiouracil and propranolol.

Context. Therapeutic plasma exchange (TPE) provides time for thyroidectomy in thyrotoxic patients. Objective. TPE is indicated in cases where antithyroid medications cannot be used due to the side effects or attain no adequate hormonal suppression response at the highest dosage and in cases of rapid onset of clinical symptoms. This study presents the treatment results of patients who underwent TPE and were subsequently operated for thyrotoxicosis. Design. The patients who underwent thyroidectomy and TPE between January 1999 and February 2019 were retrospectively analyzed. Subjects and Methods. The files of 27 patients with thyrotoxicosis who performed TPE prior to surgery were analyzed in relation to the demographic and clinical features. Results. We included 15 (55.6%) females, 12 (44.4%) males with a mean age of 44 (23-82) years. The pre-TPE mean free thyroxine (fT4) level was 12 (5-46) pmol/L while free tri-iodothyronine (fT3) level was 34 (17- 141) pmol/L. The post-TPE fT4 level was 6 (3-10) pmol/L while the fT3 level was 21 (12-41). There was one case of an allergic reaction during the procedure. In the postoperative follow-up, there was transient hypocalcemia in 8 (29%) patients, permanent hypocalcemia in 1 (3.7%) patient, and surgical site infection in 1 (3.7%) patient. Conclusion. Preoperative TPE is an alternative treatment option for thyrotoxic patients. This is an especially effective treatment for patients with inadequate response or adverse reaction to antithyroid drugs or patients who need urgent surgery for thyroid storm.

Background. Although diseases such as diabetes, hypertension, obstructive sleep apnea and hyperlipidemia are clearly documented as obesity associated diseases, it is not wellknown whether obesity causes renal pathologies. The aim of the present study was to evaluate the effect of weight loss following laparoscopic sleeve gastrectomy on clinical, renal parameters and urinary Neutrophil gelatinase-associated lipocalin (NGAL) levels in diabetic and non-diabetic obese patients. Methods. Nineteen morbidly obese patients (10 diabetic and 9 non diabetic) who underwent laparoscopic sleeve gastrectomy were evaluated clinically (anthropometric measurements) and biochemically before surgery and at 6 months from surgery. Results. Significant decreases in weight, BMI, FPG, PPG and HbA1c levels were observed in the diabetic group when the baseline and 6th month parameters of the patients were compared. There was also a significant decrease in SBP and DBP. At 6th month following laparoscopic sleeve gastrectomy, renal parameters such as creatinine, mAlb/creatinine, NGAL/ creatinine did not differ in the diabetic group. In the nondiabetic group, serum creatinine levels were significantly decreased, but other renal parameters such as mAlb/creatinine and NGAL/ creatinine were not significantly different. Conclusions. Our findings revealed significant decreases in weight, body mass index and glycemic parameters after sleeve gastrectomy in diabetic and non-diabetic patients, while no significant alteration was noted in renal functions, urinary NGAL and microalbumin levels.

Tuberous sclerosis complex (TSC) is an inherited neurocutaneous disease characterized by multiple hamartomas in multiple organs. However, there is limited evidence about neuroendocrine tumors (NETs) in patients with TSC, and routine screening of NETs is not recommended in the guidelines. Insulinomas are also an extremely rare disease. According to our knowledge, we presented the 10th TSC patient diagnosed with insulinoma in the literature. Thirty-two years old male patient diagnosed with TSC at the age of 27 due to typical skin findings, renal angiomyolipoma, history of infantile seizures, and cranial involvement was referred to our clinic. The main symptoms of the patient were palpitations, diaphoresis, confusion, and symptoms were improved after consuming sugary foods. Seventy-two hours fasting test was performed, and a low glucose level at 41 mg/dl, a high insülin level at 21.65 μIU/mL, and a high C-peptide level at 7.04 ng/mL were found at the 8th hour. In addition, a 12x7 mm lesion in the pancreatic tail was detected in abdominal imaging. Ga-68 PET-CT (gallium-68 positron emission tomographycomputed tomography) detected an increased uptake of Ga-68 in the pancreatic tail. The patient underwent distal pancreatectomy, and pathological evaluation was consistent with an insulinoma. The patient’s symptoms improved postoperatively. Since in nearly all TSC cases, as in our case, neuropsychiatric abnormalities, such as epilepsy, are one of the main disease manifestations, and these symptoms may be confused with the clinical manifestations of hypoglycemia in insulinoma. Therefore, patients with newly developed neurological symptoms and behavioral defects should be evaluated in terms of insulinoma.

This editorial discusses the context of thediscovery of GNRH 1 as a cause of congenital hypogonadotropic hypogonadism published last year by Bouligand et al in the New England Journal of Medicine

Background. Ovarian hyperstimulation syndrome (OHSS) is a potentially life-threatening complication of the luteal\r\nphase or early pregnancy after ovulation induction or ovarian stimulation. The late OHSS form presents an onset more than 10 days after ovulation triggering and is\r\ninfluenced by pregnancy-related HCG secretion.\r\nReport. This paper presents three cases of pregnancy-related OHSS after IVF/ICSI cycles discussing risk factors and management according to European Guidelines.\r\nResults. Individual risk factors are identified such as low BMI, high antral follicle count at the beginning of the ovarian stimulation, high estradiol over 3000 pg/ml.\r\nPatients had moderate OHSS (case 2) and severe OHSS (case 1 and 3). In-patient treatment was 3-14 days. OHSS resolved in\r\nall cases, without manifestations of the critical form.\r\nConclusion. The duration of OHSS is longer in the late form, is pregnancy-related and should be monitored for adverse\r\npregnancy outcomes. However the incidence of fatal risks is low and the treatment is successful.

Context. The gastrointestinal tract is one of the most affected systems in hyperthyroidism. Although thyrotoxicosis is thought to be associated with gastrointestinal dysmotility, there are limited studies focused on motility disorders in hyperthyroidism. Objectives. We aimed to investigate the manometric measurements to determine if esophageal motility is affected in Graves’ disease. Materials and Methods. Thirty patients with Graves’ disease (18 female and 12 male) and 30, age and sex matched, healthy controls (22 female and 8 male) were recruited to the study between 2015 and 2016. Esophageal manometry was performed using MMS (Medical Measurement Systems bv. The Netherlands) Solar GI – Air Charged Intelligent Gastrointestinal Conventional Manometry. Results. The mean lower esophageal sphincter pressure (LESP) was 16.9 ± 5.3 mmHg in hyperthyroid patients and 20.1 ± 8.8 mmHg in the control group and there was no significant difference (p>0.05). It was observed that the duration of contraction was 3.9 ± 0.7 s in healthy subjects and, significantly shorter 3.2 ± 0.5 s in hyperthyroid patients (p<0.001). Duration of contraction was negatively correlated with TSH receptor Ab titer in patients (p=0.006, r= -0.48). Also, it was observed that the duration of relaxation was negatively correlated with fT4 levels in the patient group (p<0.05, r= -0.46). Conclusion. In this study, we observed that esophageal motility can be affected via shortened duration of contraction in Graves’ disease. The gastrointestinal symptoms due to possible motility dysfunctions should be considered in the evaluation of hyperthyroid patients.

Background. NR5A1 [Steroidogenic factor 1 (SF1)] is a nuclear receptor that is essential for the development of gonads and adrenal glands as well as the establishment of steroidogenesis in these organs. The clinical findings of the mutations of NR5A1 gene in 46, XY individuals are variable. Virilization at puberty can be seen in some of the 46, XY children who have a female phenotype and are raised as female. A girl aged 13 years and 10 months old was brought by the family for deepening of her voice. On physical examination, her breast development was Tanner stage 2, axillary hair (+) and pubic hair was Tanner stage 4. She had labioscrotal fusion and 4.4 cm phallus (External Masculinisation Score was 6). Hypergonadotropic hypogonadism, low AMH and high testosterone levels were detected in laboratory tests. Uterus was not visualized in pelvic ultrasonography. Karyotype analysis was reported as 46, XY. Sequence analysis of the NR5A1 gene revealed a novel heterozygote c.1075_1089del (p.Leu359_Leu363del) variant. The patient was raised as a female and oestrogen replacement was started following gonadectomy. Conclusion. It should be kept in mind that virilization may develop at puberty in individuals with 46, XY disorder of sexual development due to NR5A1 mutation.

Context. Gender identity, psychosexual function, psychiatric adjustment and quality of life have been investigated in congenital adrenal hyperplasia(CAH) patients. Objective. We aimed to investigate gender identity problems and the psychiatric disorders and associated factors in children and adolescents with CAH patients. Subjects and methods. Forty-five children and adolescents with CAH were included in the study. Psychiatric comorbidity was assessed using the Schedule for Affective Disorders and Schizophrenia for School Age Children – Present and Lifetime Version. Gender identity problems were investigated using the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition criteria. Results. The mean age of the sample was 11.02 years (SD: 3.25, range: 6–18). 51.1% of the patients had at least one lifetime comorbid psychiatric disorder. The most common diagnoses were anxiety disorders, attention deficit hyperactivity disorder(ADHD), tic disorders and enuresis nocturna. Tic disorders and ADHD were higher in males but they were not statistically significant. Two female patients were diagnosed with gender dysphoria and 18.5% of females showed variably masculinized behaviors. The girls with gender identity problems expressed lower satisfaction with their sex than other girls and boys. Conclusions. Children and adolescents with CAH had many psychiatric disorders, especially neurodevelopmental disorders. ADHD and tic disorders should be kept in mind during assessment especially in male patients. Gender dysphoria and masculine behaviors seem to be common in female patients with CAH so they should be carefully investigated.

Objective: Co-existence of Cushing disease and Rathke?s Cleft Cyst (RCC) has been reported in a few cases in the literature so far. We herein describe a rare condition of Cushing disease that might originate from epithelium of RCC. \r\nCase: A 48-year-old woman was admitted to the hospital with complaints of headache, weakness, and weight gain. The patient underwent endoscopic transsphenoidal surgery due to Cushing Disease. Histopathological examination revealed cyst contents and walls compatible with RCC, and normal adenohypophysis and neurohypophysis tissues. Immunhistochemical staining with ACTH, GH, and prolactin were positive on the epithelium of the cyst. \r\nConclusion: In our case Cushing disease might be associated with hormonal activity derived from cyst wall of RCC or disappearance of a small microadenoma during surgical or pathological processing. According to recent data, origin of this lesion and histogenetic link between RCC with Cushing disease could not be explained.