A novel variant of THRβ and its 4-year clinical course in a Korean boy with resistance to thyroid hormone

Thyroid hormone resistance (RTH) is characterized by a decreased sensitivity of target tissues to thyroid hormones due to a defect in the THRα- and THRβ-encoded thyroid hormone receptors (THRs). The clinical manifestations range from no symptoms to simple goiter and hypo- or hyperthyroidism, depending on the receptor subtype distribution in the tissues. Here, we report the case of a thyroid hormone-resistant 12-month-old boy carrying a novel THRβ variant who was initially diagnosed with congenital hypothyroidism. An extensive evaluation revealed increased free T4 level and inappropriately increased thyroid-stimulating hormone (TSH) level; a normal lipid profile, sex hormone-binding globulin, and free alpha subunit of TSH; exaggerated TSH response to THR; and no radiological evidence of pituitary adenoma. A targeted next-generation sequencing panel identified a heterozygote c.993T>G (p.Asn331Lys) mutation in the THRβ gene. During the first year of life, a higher dose of levothyroxine was administered to the patient due to uncompensated RTH. Levothyroxine treatment was continued after 3 years to maintain TSH level <5 mIU/mL, but the observed weight gain was poor, height increase was insufficient, and bone development was delayed. However, neither hyperactivity nor developmental delay was observed. Patients with RTH exhibit various clinical features. Due to its heterogeneous nature, genetic test for accurate diagnosis is important to provide proper management.

Hemoperitoneum: a complication of loop electrosurgical excision procedure

Loop electrosurgical excision procedure (LEEP) is commonly performed for the management of cervical intraepithelial neoplasia. Although LEEP is considered to be a relatively simple procedure, several unexpected complications have been reported in the literature. Herein, we report a case of hemoperitoneum caused by uterine perforation following LEEP. Blood collection in pelvic cavity and two small defects of the uterus were confirmed by diagnostic laparoscopy. The defects were sutured and the patient recovered well after the operation.

Gastric type mucinous endocervical adenocarcinoma of the uterine cervix: very rare and interesting case

Gastric type mucinous endocervical adenocarcinomas of the uterine cervix (GAC) are a newly classified mucinous subtype with morphologically in 2014, WHO. They have a much more aggressiveness and show unusual metastatic patterns compared to usual type endocervical adenocarcinoma. They tend to present at higher stage and even in stage I, they have worse survival. Therefore, differential diagnosis of GAC from the usual type of endocervical adenocarcinoma is very important because they are related to a significant risk of recurrence and decreased 5-year disease-specific survival. Besides, GACs are mostly not associated with human papillomavirus (HPV) infection and p16 immunohistochemistry is also typically negative in GAC that is HPV-unassociated tumor. We report a very rare and interesting case of stage IB1 GAC with negative HPV DNA and p16.

Sonographic evaluation of bladder wall thickness in women with lower urinary tract dysfunction

OBJECTIVE: To investigate the correlation between bladder wall thickness (BWT) measured by ultrasonography and lower urinary tract dysfunction (LUTD) in patients with lower urinary tract symptoms (LUTS). METHODS: Forty-eight women with LUTS who underwent urodynamic study and BWT by ultrasonography as outpatients were studied. We assessed LUTS during a medical examination by interview. The thinnest part of the bladder wall was measured by a transabdominal ultrasonography. We excluded patients who had visited another hospital previously because we did not know what treatment they had received, including medications, behavioral therapy, or other treatments. We constructed receiver operating characteristic (ROC) curves for diagnosis of LUTD and also determined reliable BWT criteria by calculating the area under the curve. Statistical analyses were performed using the Kolmogorov-Smirnov method and Student's t-test. RESULTS: The mean age, body mass index, and duration of symptoms were 59.9±9.7 years, 26.06±3.4 kg/m², and 53.4±38.2 months, respectively. Urodynamic study parameters (Valsalva leak point pressure, maximal urethral closure pressure, functional length, and postvoid residual volume) were lower in patients with BWT < 3 mm; however, these differences were not significant. Patients with BWT ≥3 mm developed a hypoactive bladder (P=0.009) and intrinsic sphincter deficiency (ISD) (P=0.001) at a significantly higher rate. According to the ROC analysis, the best BWT cut-off value was 3 mm for overactive bladder diagnosis. CONCLUSIONS: Women with LUTD showed higher BWT values (≥3 mm), especially patients with hypoactive bladder and ISD. Sonographic evaluation of BWT is an easy, fast, and noninvasive method for possible diagnostic tool for LUTD.