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.

The present study included patients with confirmed diagnosis of ACTH-dependent hypercorticism admitted to the Department of Neuroendocrinology and Osteopathies, Endocrinological Research Centre, between 2008 and 2012. Selective blood sampling from the inferior petrosal sinuses was performed with the stimulation by decompressin administered intravenously at a dose of 8 mcg. The normalized ACTH/prolactin ratio was calculated by dividing the maximum ACTH gradient following decompressin stimulation by the ipsilateral prolactin gradient. The cut off values were calculated from the operating characteristic curves as follows: 1.5 for the prolactin gradient (sensitivity 92.5%, specificity 100%) and 1.18 for the normalized ACTH/prolactin ratio (sensitivity 85.9%; 95% CI 76.8-93.4, specificity 100%; 95% CI 60.9-100). In the study cohort (n=70), the normalized ACTH/prolactin ratio proved to be a more specific but less sensitive parameter than the routine analysis of the ACTH gradient (sensitivity 98.4%, specificity 83.3%). Areas under the operating characteristic curves were on the whole identical. However, comparison of the diagnostic value of selective blood sampling from the inferior petrosal sinuses in combination of the determination of the prolactin gradient and normalized ACTH/prolactin ratio with the results obtained in the patients in whom the catheter position was not controlled (n=47) revealed the advantages of the former approach in terms of both the number of unverified causes of hypercorticism (1 versus 6) and the area under the operating characteristic curves 0.964 (95% CI 0.897-1.032) among 70 patients and 0.910 (95% CI 0.821-0.998) among the first 47 patients (included in the analysis confined to the confirmed cases). It is concluded that the determination of the prolactin gradient and calculation of the normalized ACTH/prolactin ratio allow to increase the diagnostic value of selective blood sampling from the inferior petrosal sinuses under decompressin stimulation. This inference is especially true of doubtful cases.

Adult-onset growth hormone deficiency (GHD) remains one of the issues in clinical endocrinology. In this article, which is addressed to practitioners, physiology of growth hormone in adults is reviewed along with etiology and diagnostic criteria of this medical condition. In general, a stimulation test is required to recognize GHD. Insulin tolerance test (ITT) has been considered the gold standard by the most important scientific societies, although alternative tests, in particular GHRH plus arginine have been proposed as valuable alternative to ITT. The results of different clinical studies regarding the impact of adult-onset GH-deficiency on metabolism and quality of life are summarized and beneficial effects of growth hormone replacement therapy on many of the manifestations of GHD reviewed. The management of GHD in adults is discussed including initiation of GH treatment, dose titration and assessment of response during trail period.

Fifty two patients (23 males and 29 females) with neurogenic diabetes insipidus (DI) were examined to define the role and specific features of brain magnetic resonance imaging (MRI) in the diagnosis of hypothalamopituitary abnormalities in this disease retrospectively after establishing the diagnosis. The group understudy included patients who had symptoms of only DI (they had no signs of chiasm or hypopituitarism). The fol­lowing abnormalities were detected: no hyperintensive signal of the neurohypophysis body on T1-weighed images in 42.3%) of patients, bulky chiasmocellar masses in 13.6%), the empty ephippium in 15.3%), its structural abnormalities in 1.9%). Ab­normal MRI scans were absent in 26.9% of patients with neu­rogenic DI. Since DI may be the first and only symptom of hy­pothalamopituitary tumor lesion, a sensitive topical technicjue, such as MRI, should be applied. It was found that brain MRI revealed no hyperintensive signal from the neurohypophysis body on T1-weighed images in 61%) of the patients with idi­opathic DI, which may be a pathognomonic sign of idiopathic DI.