Pendred syndrome is a genetic condition characterized by congenital sensorineural hearing loss and thyroid abnormalities resulting from a deficiency of pendrin, encoded by the SLC26A4 gene. This deficiency disrupts iodide utilization, which is necessary for thyroid hormone synthesis, potentially leading to partial organification defects. The hearing impairment associated with Pendred syndrome constitutes 4–10% of cases of congenital deafness, primarily due to inner ear abnormalities. Imaging studies, such as CT and MRI may reveal modiolus deficiency, an enlarged vestibular aqueduct, and cochlear dysplasia. A 13-year-old girl with Pendred syndrome and a history of bilateral hearing loss since the age of 4 years presented with goiter. (a, b) Ultrasound showing thyroid enlargement associated with increased vascularity. (c) MRI showing vestibular aqueduct enlargement (arrow).

In this cohort, we investigated the mortality rate and standardized mortality ratio (SMR) among all patients who developed type 1 diabetes at age <15 years from 1959 to 1996 in Hokkaido Prefecture, Japan. Out of 521 enrolled patients, we analyzed the data of 391 whose attending physicians replied to our survey. Mortality rates per 100,000 person-years and SMRs were 475 and 6.9 for all patients, 559 and 8.5 for men, and 424 and 6.0 for women, respectively. For the time of onset of type 1 diabetes, these variables were 823 and 8.8 between 1959 and 1979, 370 and 5.9 between 1980 and 1989, and 133 and 3.2 between 1990 and 1996, respectively. Mortality rates per 100,000 person-years and SMRs were 452 and 7.3 for onset before puberty and 514 and 6.3 for onset after puberty, respectively, and 480 and 7.1 for the acute-onset subtype and 428 and 5.6 for the incidentally detected non-acute-onset subtype, respectively. Upon survival analysis, we observed no difference in mortality or lifespan between the sexes. Mortality and lifespan were not different between pre- and postpubertal onset and did not differ between the subtypes of type 1 diabetes.

We report the case of a 7-year-old boy with familial bilateral pheochromocytoma that recurred one year after partial adrenalectomy. Genetic analysis revealed a novel heterozygous in-frame germline variant in the VHL gene (NM_000551.4, c.565_585 dup, pGlu189_Gln195dup) in both the patient and his father, without any other clinical manifestations of the von Hippel–Lindau (VHL) disease. (Upper) Family pedigree of the proband and his parents. (Lower) Schematic representation of the VHL gene and protein structure has been presented. The variant (red) is located on Exon3 of the VHL gene, which encodes the Elongin C-binding site. In-frame insertion or deletion variants may disrupt the three-dimensional structure of the encoded proteins, particularly when located at the Elongin C-binding site. As a result, this variant may lead to pheochromocytomas, similar to the missense variants. Variants affecting the Elongin-C binding site have been associated with VHL type 2C, which is primarily presented with pheochromocytomas.