ESPE Abstracts

Introduction: Phosphatase and tensin homolog (PTEN) is a tumor suppressor gene involved in the PI3K/AKT/mTOR pathway. Mutations in the PTEN gene are known to cause PTEN Hamartoma Tumor Syndrome (PHTS), an autosomal dominant disorder. This syndrome is characterized by proliferative lesions in various tissues, including the thyroid gland, breast, gastrointestinal system, kidneys, and endometrium. We present a patient who initially presented with a breast mass an...

Introduction: Peutz-Jeghers syndrome (PJS) is a disorder characterized by autosomal dominant inheritance, hamartomatous polyps in the gastrointestinal system, mucocutaneous pigmentation, and a predisposition to malignancies, caused by mutations in the STK11 gene. In male patients, large cell calcifying Sertoli cell tumors associated with prepubertal gynecomastia can be observed. We present a case of prepubertal gynecomastia that led to a diagnosis of PJS durin...

Introduction: The calcium-sensing receptor (CaSR) detects calcium levels and regulates parathyroid hormone (PTH) secretion to maintain serum calcium within normal ranges. Inactivating mutations in the CASR gene cause hyperparathyroidism and hypercalcemia. Heterozygous mutations lead to familial hypocalciuric hypercalcemia (FHH), homozygous mutations cause neonatal severe hyperparathyroidism (NSHPT). Cinacalcet is an allosteric modulator of CaSR. This ...