Our results support the previous finding that germline CDKN1B/p27(Kip1) mutations predispose to a human MEN1-like condition. However, such mutations appear uncommon in suspected MEN1 cases and rare or nonexistent in familial or sporadic acromegaly/pituitary adenoma patients.

PCOS has a negative impact on HRQoL even when compared with other serious health conditions. The PCOSQ is reliable and valid for clinical use.

25(OH) VDD is associated with tenofovir-linked hyperparathyroidism and also with higher eGFR.

Context Germline mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene are responsible for a subset of familial isolated pituitary adenoma (FIPA) cases and sporadic pituitary neuroendocrine tumors (PitNETs). Objective To compare prospectively diagnosed AIP mutation-positive (AIPmut) PitNET patients with clinically presenting patients and to compare the clinical characteristics of AIPmut and AIPneg PitNET patients. Design 12-year prospective, observational study. Participants & Setting We studied probands and family members of FIPA kindreds and sporadic patients with disease onset ≤18 years or macroadenomas with onset ≤30 years (n = 1477). This was a collaborative study conducted at referral centers for pituitary diseases. Interventions & Outcome AIP testing and clinical screening for pituitary disease. Comparison of characteristics of prospectively diagnosed (n = 22) vs clinically presenting AIPmut PitNET patients (n = 145), and AIPmut (n = 167) vs AIPneg PitNET patients (n = 1310). Results Prospectively diagnosed AIPmut PitNET patients had smaller lesions with less suprasellar extension or cavernous sinus invasion and required fewer treatments with fewer operations and no radiotherapy compared with clinically presenting cases; there were fewer cases with active disease and hypopituitarism at last follow-up. When comparing AIPmut and AIPneg cases, AIPmut patients were more often males, younger, more often had GH excess, pituitary apoplexy, suprasellar extension, and more patients required multimodal therapy, including radiotherapy. AIPmut patients (n = 136) with GH excess were taller than AIPneg counterparts (n = 650). Conclusions Prospectively diagnosed AIPmut patients show better outcomes than clinically presenting cases, demonstrating the benefits of genetic and clinical screening. AIP-related pituitary disease has a wide spectrum ranging from aggressively growing lesions to stable or indolent disease course.

Primary hyperparathyroidism (PHPT) is present in up to 0.1% of the general population. The incidence is higher in women and increases with age. The majority of the cases is asymptomatic and up to 85% are due to single gland adenoma. Parathyroidectomy is the treatment of choice after localization of the hyperactive gland. Papillary Thyroid Carcinoma (PTC) is the most common cancer of the thyroid and constitutes more than 70% of thyroid malignancies. PTC can present as a single nodule or can be Multifocal. The incidence is higher in women. Early treatment favors a good prognosis. PTC with PHPT has been reported in 2.3-4.3% of patients undergoing surgery for PHPT. The coexistence of parathyroid adenoma and incidental PTC is thought to be rare. The mechanisms underlying the relationship between PHPT and PTC have not been established. We suggest a possible hypothesis for the relationship based on shared embryological origin and genes, high parathyroid hormone (PTH), low 1,25 hydroxy vitamin D, hypercalcemia resulting in high levels of angiogenic growth factors. This promotes the formation of parathyroid adenomas and papillary thyroid carcinoma. Presence of these two diseases can complicate patient management due to untreated hypercalcemia, unrecognized thyroid cancer and need for second surgery if not screened for both diseases carefully.