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Diastrophic dysplasia (DTD) is caused by biallelic pathogenic variants in the SLC26A2 gene. We report the case of a 49-year-old female with DTD and esophageal stenosis. This broadens the phenotypic spectrum in adult patients with DTD and raises awareness of extra-skeletal manifestations that could develop in later stages of life., Competing Interests: All authors declare that they have no conflict of interest., (© 2023 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.)

X-linked hypophosphatemia (XLH) is a rare disexase in which patients present with severe bowing of the legs, joint pain, and mobility problems. XLH has major adverse repercussions on the quality of life., Competing Interests: The authors declare no conflict of interest., (© 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.)

Insulinoma may have an atypical presentation and it should be suspected in patients with neurological manifestations in spite of an atypical insulin and proinsulin levels associated with hypoglycemia. Fast test is an important tool to reach the diagnosis., Competing Interests: None declared., (© 2021 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.)

The evaluation of first-degree family members is very important to detect additional cases of polyglandular autoimmune syndrome type 2. The genetic evaluation of human leukocyte antigen (HLA) may be useful in the study of this syndrome. This study is the first report of an HLA study of this syndrome in a Mexican family.

Etomidate is a very effective drug in severe Cushing's syndrome that is refractory to ketoconazol. Control of the serum cortisol levels in ectopic Cushing's syndrome can be obtained with infusion rates much lower than those used in anesthesia, without respiratory side effects.