Response to sorafenib in a locally advanced oncocytic cell carcinoma of the thyroid.

We present the case of a female patient in her late 70s, diagnosed with widely invasive oncocytic cell carcinoma, with extrathyroidal extension, infiltration into the extrathyroidal muscle, involvement of the sternohyoid muscle and infiltration into the external muscle fibres of the oesophagus. Over the following year, metastases were documented in the lungs, bones and brain. Additionally, there was progression of the locally advanced lesion involving the airway and upper gastrointestinal tract. After considering iodine refractoriness, treatment with sorafenib was initiated. Notably, regression of the locoregional lesion at the cervical level was observed following treatment with the multikinase inhibitor.

Maturity-onset Diabetes of the Young Type 7 (MODY7) and the Krüppellike Factor 11 Mutation (KLF11). A Review.

INTRODUCTION: Maturity-onset diabetes of the young (MODY) is a rare disease due to a single gene mutation that affects several family members in most cases. The Krüppel-like factor 11 (KLF11) gene mutation is associated with decreased insulin sensitivity to high glucose levels. KLF 11 has been implicated in the pathogenesis of MODY type 7 but given its low prevalence, prolonged subclinical period, and the emergence of new information, doubts are raised about its association. METHODS: A literature search of the PubMed, Scopus, and EBSCO databases was performed. The terms "Diabetes Mellitus, Type 2/genetics", "Mason-Type Diabetes" , "Maturity-Onset diabetes of the young", "KLF11 protein, human", and "Maturity-Onset Diabetes of the Young, Type 7" were used"., "Diagnosis" The search selection was not standardized. RESULTS: The KLF1 mutation is rare and represents <1% of the mutations associated with monogenic diabetes. Its isolation in European family lines in the first studies and the emergence of new variants pose new diagnostic challenges. This article reviews the definition, epidemiology, pathophysiology, diagnosis, and treatment of MODY type 7. CONCLUSION: MODY type 7 diabetes represents a rare form of monogenic diabetes with incomplete penetrance. Given its rarity, its association with impaired glucose metabolism has been questioned. Strict evaluation of glycemic control and the appearance of microvascular complications are key areas in the follow-up of patients diagnosed with MODY 7. More studies will be required to characterize the population with KLF11 mutation and clarify its correlation with MODY.

Maturity-onset diabetes of the young type 3 and premature ovarian insufficiency: chance or causality: a case report and literature review.

Summary: We present the case of a 23-year-old patient with maturity-onset diabetes of the young type 3 (MODY 3) and premature ovarian insufficiency (POI). There is no known correlation between MODY 3 and POI, although POI can impair glucose metabolism, and MODY can cause microvascular complications such as POI. We did not find literature describing a correlation between these two pathologies nor did we find similar cases described in the literature. Learning points: Maturity-onset diabetes of the young type 3 (MODY 3) is an infrequent cause of diabetes that should be considered in young patients with atypical presentation of type 1 or type 2 diabetes. MODY 3 can be associated with microvascular complications of diabetes, which is why it is important to diagnose as early as possible. Impairment of glucose metabolism has been demonstrated in patients with premature ovarian insufficiency and menopause.