High frequency of transient congenital hypothyroidism among infants referred for suspected congenital hypothyroidism from the Turkish National screening program: thyroxine dose may guide the prediction of transients.

PURPOSE: We aimed to determine the frequency of transient congenital hypothyroidism (TCH) in 17 participating centers in Türkiye, evaluate the etiological distribution in permanent congenital hypothyroidism (PCH) cases, and investigate the role of laboratory and clinical findings in predicting TCH. METHODS: This retrospective observational multicenter study included patients from 17 pediatric endocrinology centers identified by "National Newborn Screening Program" (NNSP) who were born in 2015 and followed for 6 years. Demographic, clinical, and laboratory information of the cases were compiled through the database http://cedd.saglik-network.org (CEDD-NET). RESULTS: Of the 239 cases initially treated for CH, 128 (53.6%) were determined as transient in whom a trial of levothyroxine (LT4) withdrawal was performed at a median age of 36 (34-38) months. Among the patients with PCH (n = 111), thyroid dysgenesis was diagnosed in 39.6% (n = 44). The predictive factors for TCH were: LT4 dose at the withdrawal of treatment, and initial newborn blood screening (NBS)-TSH level. Based on the receiver operating characteristic (ROC) curve analysis to predict optimal cut-offs for TCH predictors, LT4 dose < 2.0 µg/kg/day at treatment discontinuation was predictive for TCH and was associated with 94.5% specificity and 55.7% sensitivity, with an area under the curve (AUC) of 0.802. The initial NBS-TSH level value < 45 µIU/mL was predictive for TCH with 93.1% specificity and 45.5% sensitivity, with an AUC of 0.641. In patients with eutopic thyroid gland only LT4 dose < 1.1 µg/kg/day at withdrawal time was predictive for TCH with 84.7% sensitivity and 40.4% specificity, with an AUC of 0.750. CONCLUSION: According to our national follow-up data, the frequency of TCH was 53.6%. We determined the LT4 dose < 2.0 µg/kg/day at discontinuation of treatment and the initial NBS-TSH level < 45 µIU/mL as the best cut-off limits to predict TCH.

Familial Atypical Hemolytic Uremic Syndrome with Positive p.S1191L (c.3572C>T) Mutation on the CFH Gene: A Single-center Experience.

The atypical hemolytic uremic syndrome (aHUS) is characterized by thrombocytopenia, microangiopathic hemolytic anemia and acute kidney injury (AKI), which can exhibit a poor prognosis. Complement factor H (CFH) gene mutations play a key role in this disease, which may be sporadic or familial. We studied 13 people from the same family, investigated for gene mutations of the familial aHUS after a family member presented to our emergency clinic with the aHUS and reported a family history of chronic renal failure. The p.S1191L mutation on the CFH gene was heterozygous in six people from the patient's family with the aHUS. One of these family members is our patient with acute kidney injury, and the other two are followed at the Nephrology Clinic, Medeniyat University, Goztepe Training and Research Hospital, Istanbul, Turkey, due to chronic renal failure. The other three family members showed no evidence of renal failure. The index case had a history of six sibling deaths; three died of chronic renal failure. Plasmapheresis and fresh frozen plasma treatment were administered to our patient. When the patient showed no response to this treatment, eculizumab (ECZ) therapy was started. The study demonstrated that thorough family history should be taken in patients with the aHUS. These patients may have the familial type of the disease, and they should be screened genetically. Eculizumab should be the first choice in the treatment with plasmapheresis. It should be kept in mind that the use of ECZ as prophylaxis in posttransplant therapy is extremely important for preventing rejection.

Management of Rapidly Progressive Precocious Puberty in a Patient with Mosaic Turner Syndrome.

CONTEXT: Rapidly progressive precocious puberty (RPPP) is a rare condition in Turner syndrome (TS), with no consensus on treatment and follow-up. Only 12 cases have been reported so far. OBJECTIVE: We aimed to evaluate the effects of the GnRH analog (GnRHa) on growth and anti-mullerian hormone (AMH) levels in TS and RPPP. DESIGN: The clinical and laboratory data was recorded at baseline and after treatment. SUBJECTS AND METHODS: An 8.1-year old girl with a karyotype of 45, X/46, XX presented with breast development at Tanner stage-2. Breast development advanced to Tanner stage-3 at the age of 8.7 years. Growth velocity (GV) was 8 cm/year. Bone age was 11 years with a predicted adult height of 152 cm. Luteinizing hormone (LH) was 1.69mIU/mL and estradiol was 33pg/mL, confirming the central puberty. AMH level was 6.33ng/mL. The sizes of ovaries and uterus were compatible with the pubertal stage, with an endometrial thickness of 5 mm. GnRHa was started for RPPP. RESULTS: After three months, GV declined to 0 cm/3 months and AMH level to 50% of the baseline. Growth hormone (GH) treatment was started for insufficient growth. GV improved with GH treatment, as well as a far more decreased AMH level. RESULTS: After three months, GV declined to 0 cm/3 months and AMH level to 50% of the baseline. Growth hormone (GH) treatment was started for insufficient growth. GV improved with GH treatment, as well as a far more decreased AMH level. CONCLUSION: GV usually declines before puberty in patients with TS, even if the mid-parental height is tall. RPPP should be considered if GV is increased. Excessive suppression of growth may be prevented with GH treatment. GnRHa treatment also plays a role in reducing AMH levels in patients with TS.

532 nm green-light laser vaporization of upper tract urothelial carcinoma.

BACKGROUND: Endoscopic management of low risk upper tract urothelial carcinoma (UTUC) may be considered in select clinical scenarios, which allows sparing the morbidity of radical nephroureterectomy while achieving acceptable oncological outcomes and preservation of kidney function. Herein, we present a case with UTUC in a solitary kidney managed with 532 nm laser vaporization through a percutaneous approach. CASE PRESENTATION: The patient in this video (Additional file 1) is an 85-year-old woman who presented with a bulky tumor in the collecting system of a congenital solitary left kidney, which was a biopsy proven low grade urothelial carcinoma. Prior to the procedure, a lower pole percutaneous nephrostomy tube was successfully placed under sedation by Interventional Radiology. The procedure was done in a prone split leg position. The mass, which was predominantly localized to the renal pelvis was efficiently vaporized with the 532 nm laser in a systematic manner with continuous irrigation of normal saline through the cystoscope. The patient was discharged home on postoperative day 2 with the nephroureterostomy catheter open to drainage. This catheter was subsequently clamped and removed two weeks later without complications. Follow up uretroscopy showed excellent treatment response and the patient remains well without complications. CONCLUSION: This case report details the potential utility of 532 nm laser vaporization of UTUC, however, ongoing studies are required to demonstrate peri-operative safety and durable oncologic efficacy.

Ghrelin and obestatin levels in end-stage renal disease.

Malnutrition is fairly common in end-stage renal disease (ESRD) patients, persistent lack of appetite being a major symptom. Ghrelin and obestatin are two hormones that are involved in appetite and energy homeostasis. The present study examined ghrelin and obestatin levels in 24 ESRD patients undergoing haemodialysis and 24 age-matched healthy controls. Serum and saliva ghrelin and obestatin levels in the ESRD patients were significantly higher compared with controls, while saliva ghrelin and obestatin levels in all study participants were significantly higher than serum levels. Saliva ghrelin correlated with serum ghrelin and saliva obestatin correlated with serum obestatin in all study participants, although there was no correlation between ghrelin and obestatin levels. In conclusion, the results suggest that the kidneys may have a role in the metabolism and/or clearance of obestatin, as they do for ghrelin. Further studies are needed to determine if elevated levels of these hormones in ESRD patients contribute to the malnutrition that is common in these patients.

Hypokalemic quadriparesis associated with renal tubular acidosis in a patient with Sjögren's syndrome.

Sjögren's syndrome is an autoimmune exocrinopathy that involves both glandular and extra-glandular systems. We report a 25-year-old woman who had rapidly progressive quadriparesis. Biochemical investigations showed severe hypokalemia with hyperchloremic metabolic acidosis diagnosed as distal renal tubular acidosis. Salivary gland biopsy revealed Sjögren's syndrome as the underlying cause. She recovered following from quadriparesis potassium and alkali replacement.

Does circumcision have a relationship with ejaculation time? Premature ejaculation evaluated using new diagnostic tools.

The aim of the study is to investigate whether there is an effect of adult circumcision on ejaculation parameters and to research the relationship between intravaginal ejaculation latency time (IELT) and premature ejaculation diagnostic tool (PEDT). Adults who underwent voluntary circumcision between September 2010 and November 2011 were enrolled in this prospective study. The IELT before and 3 months following circumcision was recorded. Also, PEDT was filled out before and 3 months after circumcision. During statistical evaluation, the comparison of situations before and after circumcision was made using IELT averages and PEDT total scores. Furthermore, the correlation between changes in IELT and PEDT has also been evaluated. A total of 30 volunteers (mean age 21.25±0.44) were enrolled in the study. The volunteers' mean and median IELT before were 104.36±66.21 and 88 (26-307) seconds, whereas mean and median IELT after circumcision were 123.56±54.44 and 107.5 (67-300) seconds, respectively. The increase after circumcision was statistically significant (P=0.001). The mean and median PEDT score were 4.26±2.91 and 3 (1-12) before, and 2.63±1.82 and 2 (0-7) after circumcision. Improvement was statistically significant (P<0.0001). No correlation could be found between ejaculation time and PEDT scores. Circumcision during adulthood does not adversely affect ejaculatory function; it may slightly improve. However, it could not be interpreted as a justification for circumcision in men with premature ejaculation (PE).

Mushroom poisoning.

OBJECTIVE: We aimed to review characteristics of mushrooms and mushroom poisoning and compare clinical picture, laboratory data, treatment modalities and prognostic factors in children with amanita intoxication and non-amanita mushroom poisoning. METHODS: We analyzed 39 pediatric patients through 1994-2004, retrospectively from the patient files and evaluated the patients in two groups as patients with amanita intoxication and patients with non-amanita mushroom poisoning. All of the cases were admitted to the hospital in autumn. Twenty three (59%) of the patients were female and 16 (41%) were male. Mean age of the patients was 8.05 +/- 2.10 years. RESULTS: Amanita phalloides toxin was detected in the serum in 8 patients. Eleven (28%) of the cases were strongly suggestive of amanita poisoning but alpha amanitin level could not be studied. The average time of appearance of symptoms after mushroom consumption, duration of symptoms, hospital stay, serum AST, ALT, PT and creatinine levels were significantly higher in patients with amanita poisoning (p<0.01). Conventional therapy, antidote therapy together with hemoperfusion were carried out in 16 (41%) of the patients. Four of the patients in whose blood amatoxin was detected (50%) and 3 of the patients highly suggestive of amanita poisoning (30%), totally 7 patients died of hepatic coma. The average time of admission to hospital, mean AST, ALT, creatinine and PT values at 3rd day were significantly higher in patients who died of hepatic coma. Prognosis was better in case of early admittance to hospital in patients with amanita poisoning. CONCLUSION: Early diagnosis and treatment in mushroom poisoning can be life saving. Public awareness is very important in prevention of intoxication as well as encouraging early admission to hospitals.