Objective To describe a case of maturity-onset diabetes of the young (MODY) to highlight the importance of a correct diabetes diagnosis. Methods We describe a Mexican family misdiagnosed with T1D and T2D. Results A 36-year-old woman with diabetes and adverse outcomes during 2 pregnancies had been diagnosed with T2D 10 years ago. Genetic testing was performed due to clinical and family history, which showed a pathogenic heterozygous variant c.544G>T (p.Val182Leu) in the GCK gene. This mutation was also confirmed in most of the family members who had been diagnosed with diabetes. Conclusion This case highlights the need for a correct diabetes classification. Reassessment of diabetes etiology is justified, especially in individuals with unclear clinical presentation or when family history is suggestive.
Background: Non-functioning pituitary adenoma (NFPAs) are benign tumors of the pituitary gland characterized by the absence of hormonal hypersecretion. Surgical treatment and fractionated stereotactic radiotherapy (FSRT) are necessary in majority of patients. NFPAs appear to cause higher mortality compared to the general population. Objective: To assess outcomes in patients with NFPAs treated with stereotactic linear accelerator radiation therapy. Material and Methods: Comparative, observational, longitudinal study, with prolective evaluation, from January 1987 to August 2019. Results: 264 patients (65.5% women and 34.5% men, mean age 43 ± 16 years) with a diagnosis of non-functional adenomas were evaluated. 30 patients received FSRT (14%), 93% were macroadenomas, and 80% of the cases were operated as a first line of treatment. The mean number of surgeries before radiotherapy was 1.2+-.847 (0-4). FSRT were used in 91.7% (n=21) because of post-surgical recurrence. Diabetes insipidus after surgery was transitory in 5.4%, and persistent in 4.0%. Hypopituitarism was identified in 59.4% before radiation (n=19), and in 13 patients (7.7%) after mean of 6.5+-5.5 years of FSRT. Dyslipidemia (62.0% vs. 45.9%), high blood pressure (16.5% vs. 23%), type 2 diabetes mellitus (10% vs. 77%) and heart failure (10% vs. 8.4%) were observed in the irradiated vs. non-irradiated groups, respectively (p<0.05). Conclusions: FSRT is a useful and safe strategy as an adjuvant treatment in patients with NFPA.
Background: Adrenocortical carcinoma (ACC) is an exceedingly rare and aggressive cancer, with an incidence of 1-2 cases/ million-year; there are limited ACC data in the Mexican population. Herein we present our experience with ACC at a referral center per a retrospective cohort study. All medical records of consecutive patients with a histological diagnosis of ACC evaluated at our Institution from January, 1 st 2000 until August 31 st , 2018 were reviewed. Clinical, pathological and laboratory variables were recorded. Results: Sixteen patients with ACC were identified. Median age at diagnosis was 49 years (range, 19-71 years) and 13 were women (81%). Mode of discovery were hormonal excess syndrome (8, 50%) or local symptoms (8, 50%), with none found incidentally. Biochemical proven hormonal excess occurred in 9 (56%), 4 co-secreting corticosteroids and androgens, 2 corticosteroids only, 2 androgens only and 1 aldosterone only. Median tumor size at diagnosis was 12.8 cm (range, 5.9-21 cm) and all had unenhanced CT attenuation >10 Hounsfield units (median HU 33, range 20-39). Initial staging per ENSAT (European Network for the Study of Adrenal Tumors) was: stage II (50%), III (19%) and IV (31%). All patients with localized disease (stage II-III) had a curative intention resection (n=11). For those with advanced disease (stage IV; n=5), cytotoxic chemotherapy was only given to 2 patients. For individuals with initial localized disease, recurrences occurred in 4/11 (36%) and 3 of these were treated with chemotherapy; platinum plus etoposide was the usual regimen. None of the study patients received mitotane, but hormonal blocking therapy was given to 55% (5/9); 4/6 with hypercortisolism. Median follow-up was 13 months (range, 1-139) and at last contact 9 (56%) patients were alive (4 with no evidence of disease). The median overall survival (OS) was 35.5 months (CI 95%, 8.0-62.9). Conclusions: Our data are consistent with other published series; ACC occurs rarely, at ~50 years of age, mostly in women, and commonly as large-sized tumors (~13 cm). Surprisingly none of the cases from our institution were diagnosed incidentally, in contrast to previous studies (~15% incidental). Unfortunately, mitotane was not accessible to our patients given its absence in the Mexican market and patients at our institution are uninsured and cannot gain access to this drug. Nonetheless, the median OS was comparable to the estimated OS of 3-4 years for all ACC patients.
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