Hormonal control during infancy and testicular adrenal rest tumor development in males with congenital adrenal hyperplasia: a retrospective multicenter cohort study

IMPORTANCE Testicular adrenal rest tumors (TARTs), often found in male patients with congenital adrenal hyperplasia (CAH), are benign lesions causing testicular damage and infertility. We hypothesize that chronically elevated adrenocorticotropic hormone exposure during early life may promote TART development. OBJECTIVE This study aimed to examine the association between commencing adequate glucocorticoid treatment early after birth and TART development. DESIGN AND PARTICIPANTS This retrospective multicenter (n = 22) open cohort study collected longitudinal clinical and biochemical data of the first 4 years of life using the I-CAH registry and included 188 male patients (median age 13 years; interquartile range: 10-17) with 21-hydroxylase deficiency (n = 181) or 11-hydroxylase deficiency (n = 7). All patients underwent at least 1 testicular ultrasound. RESULTS TART was detected in 72 (38%) of the patients. Prevalence varied between centers. When adjusted for CAH phenotype, a delayed CAH diagnosis of >1 year, compared with a diagnosis within 1 month of life, was associated with a 2.6 times higher risk of TART diagnosis. TART onset was not predicted by biochemical disease control or bone age advancement in the first 4 years of life, but increased height standard deviation scores at the end of the 4-year study period were associated with a 27% higher risk of TART diagnosis. CONCLUSIONS AND RELEVANCE A delayed CAH diagnosis of >1 year vs CAH diagnosis within 1 month after birth was associated with a higher risk of TART development, which may be attributed to poor disease control in early life

Patients' preferences for subcutaneous trastuzumab versus conventional intravenous infusion for the adjuvant treatment of HER2-positive early breast cancer: final analysis of 488 patients in the international, randomized, two-cohort PrefHer study

PrefHer revealed compelling and consistent patient preference for subcutaneous (s.c.) trastuzumab, regardless of delivery by single-use injection device or hand-held syringe. s.c. trastuzumab was well-tolerated and safety data, including immunogenicity, were consistent with previous reports. No new safety signals were identified compared with the known intravenous trastuzumab profile in early breast cance

Optimization of pure borax pentahydrate extraction from calcined tincal

In this study, conditions for the calcination process of tincal were investigated and the optimum calcination conditions for boron extraction from tincal were determined. The experimental parameters were dissolution temperature, solid-to-liquid ratio, dissolution time and stirring speed. The optimum dissolution parameter levels were determined to be temperature 80 °C, solid-to-liquid ratio 10 g/dm3, stirring speed 250 rpm and dissolution time 5 min

Quantification of the weakness and fatigue in thoracic outlet syndrome with isokinetic measurements

Objectives: Patients with thoracic outlet syndrome (TOS) complain of many subjective symptoms that are difficult to measure and quantify. In this study we have tried to assess the weakness (muscle strength) and fatigue (endurance) of these patients with an objective measurement method, isokinetic muscle testing. Methods: Twenty three TOS patients and 15 age matched healthy controls were enrolled in the study. Detailed histories of the patients were taken and the patients underwent complete physical examinations. Cervical radiographies, Doppler ultrasonography, electromyography, and isokinetic measurements were carried out. The isokinetic measurements were carried using the Biodex System 3 dynamometer during concentric shoulder flexions and extensions at velocities of 60°/s, 180°/s, and 240°/s. Results: Although the muscle strengths of both groups seemed to be similar, the fatigue ratios of TOS patients at 60°/s and 180°/s were found to be higher compared with those of healthy controls (p = 0.029, p = 0.007). Conclusions: TOS patients were found to have muscular performance similar to controls, but their upper extremities developed fatigue more easily than those of healthy individuals

Evaluation of growth and puberty in a child with a novel TBX19 gene mutation and review of the literature

Background Biallelic mutations in the TBX19 gene cause severe early-onset adrenal failure due to isolated ACTH deficiency (IAD). This rare disease is characterized by low plasma ACTH and cortisol levels, with normal secretion of other pituitary hormones. Herein, we report a patient with IAD due to a novel TBX19 gene mutation, who is also of tall stature. Case report A 4(8/12)-year-old girl was presented with loss of consciousness due to hypoglycemia. The patient was born at term with a birth weight of 3800 g. Her parents were first-degree cousins. She had a history of several hospitalizations for recurrent seizures, abdominal pain, and vomiting. At presentation, her weight and height were + 1.8 and + 2.2 SDS, respectively. Serum glucose was 25 mg/dl (1.4 mmol/L), with normal sodium, potassium, and insulin concentrations. The child was hypocortisolemic (0.1 mu g/dl), and ACTH levels were extremely low ( A (W101*) mutation in the TBX19 gene. Conclusion We report a new mutation in the TBX19 gene in a patient with isolated ACTH deficiency. While overgrowth is a known feature of some types of adrenal insufficiencies, including MC2R gene defects and POMC deficiency, it may be a novel feature for TPIT deficiency, as in our patient