Multiple endocrine neoplasia type 2 and autoimmune polyendocrine syndromes (type 1 diabetes mellitus and Graves' disease) in a 16-year-old male with Kabuki syndrome
We describe the clinical, molecular, and biochemical findings of MEN2A, APS-2, and Kabuki syndrome (KS) in a 16-year-old male. Whole exome sequencing was performed to identify the genetic cause of the pheochromocytoma and syndromic features including facial dysmorphism, developmental delay, and epilepsy. RET pathogenic variant and KMT2D pathogenic variant were identified, and he was diagnosed with MEN2A and KS. This is the first case of association between MEN2 and APS in adolescence and the second proven case in humans. In addition, this is the first report of MEN2 and APS in KS.PMID:35676000 | DOI:10.1507/endocrj.EJ22-0084
Source: Endocrine Journal - Category: Endocrinology Authors: Esther Park Min-Sun Kim Eu Seon Noh Ji-Eun Lee Su Jin Kim Young Se Kwon Sung Yoon Cho Source Type: research
More News: Addison's Disease | Autoimmune Disease | Cancer | Cancer & Oncology | Diabetes | Diabetes Mellitus | Diabetes Type 1 | Diabetes Type 2 | Endocrinology | Epilepsy | Genetics | Hyperparathyroidism | Kabuki Syndrome | Men | Multiple Endocrine Neoplasia | Multiple Endocrine Neoplasia Syndrome | Pheochromocytoma | Thyroid | Thyroid Cancer