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Context: Cushing syndrome (CS) is associated with different hematological abnormalities. Nevertheless, conflicting data about erythropoiesis in CS have been reported. Furthermore, it is unclear whether CS sex and subtype-specific alterations in red blood cells (RBC) parameters are present. Objective: To investigate sex and subtype-specific changes in RBC in patients with CS at initial diagnosis and after remission. Design: Retrospective, monocentric study including 210 patients with CS (women, n = 162) matched 1:1 for sex and age to patients with pituitary microadenomas or adrenal incidentalomas (both hormonally inactive). RBC parameters were evaluated at initial diagnosis and after remission. Results: Women with CS had higher hematocrit (median 42.2 vs39.7%), hemoglobin (14.1 vs13.4 g/dl) and mean corpuscular volume (MCV) (91.2 vs87.9 fl) compared to the controls (all p< 0.0001). Women with Cushing disease (CD) showed higher hematocrit, RBC and hemoglobin levels than those with ectopic Cushing (ECS) (all p< 0.005). Men with CS had lower hematocrit (42.9 vs44.7%), RBC count (4.8 vs5.1n*106/µl) and hemoglobin (14.2 vs15.4 g/dl), but higher MCV (90.8 vs87.5 fl) than controls (all p< 0.05). In men with CS, no subtype-specific differences were identified. Three months after remission hemoglobin decreased in both sexes. Conclusion: CS is characterized by sexual and subtype-specific differences in RBC parameters. Compared to controls, women with CS showed higher hematocrit/hemoglobin levels, whereas men had lower hematocrit/hemoglobin, which further decreased directly after remission. Therefore, anemia should be considered as complication of CS in men. In women, differences in RBC parameters may help to differentiate CD from ECS.

The most frequent genetic alteration of familial isolated growth hormone producing pituitary neuroendocrine tumors is a germline mutation of the aryl hydrocarbon receptor-interacting protein (AIP)gene. Various AIPmutations are already known; however, an AIPmutation in exon 6 (c.811_812del; p.Arg271Glyfs*16) has not been reported yet. Here, we report a German family with two identical twins who were both affected by acromegaly and carried the above-mentioned novel AIPmutation. The father was found to be an unaffected carrier, while the paternal aunt most likely suffered from acromegaly as well and died from metastatic colorectal cancer. Apart from reporting a novel AIPmutation, this study does not only highlight the different clinical and histological features of the AIPmutated growth hormone producing pituitary neuroendocrine tumors but also confirms the poor responsiveness of dopamine agonists in AIPmutated acromegaly. Furthermore, it highlights the increased mortality risk of comorbidities typically associated with acromegaly.

Purpose: Primary bilateral adrenal hyperplasia (PBMAH) is associated with hypercortisolism and a heterogeneous clinical expression in terms of cortisol secretion and related comorbidities. Historically, treatment of choice was bilateral adrenalectomy (B-Adx); however, recent data suggest that unilateral adrenalectomy (U-Adx) may be an effective alternative. For the latter, factors predicting the postsurgical outcome (e.g., biochemical control) have not been identified yet. Methods: PBMAH patients undergoing U-Adx for overt Cushing’s syndrome (CS) in two tertiary care centers were retrospectively analysed. Remission was defined as a normalization of urinary free cortisol (UFC) without the need for medical treatment. The potential of hCRH test as a predictor of U-Adx outcome was evaluated in a subgroup. Results: 23 patients were evaluated (69% females, mean age 55 years). Remission rate after U-Adx was 74% at last follow up (median 115 months from UAdx). Before U-Adx, a positive ACTH response to hCRH (Δ%ACTH increase > 50% from baseline) was associated with higher remission rates. Conclusions: Three of four patients with PBMAH are surgically cured with U-Adx. Pre-operative hCRH testing can be useful to predict long-term remission rates.

Les incidentalomes corticosurrénaliens (ICS) responsables d’hypercortisolisme modéré et autonome (MACS) sont associés à une morbidité et mortalité cardiovasculaires accrues par rapport aux ICS non fonctionnels. La causalité du MACS et le bénéfice de l’exérèse des ICS demeure incertaine du fait des imperfections méthodologiques des études publiées.

Les PPGM sont des tumeurs très rares (<1/106) pour lesquels il n’y a pas de standard thérapeutique validé. Nous rapportons ici les résultats de la 1èreétude académique randomisée évaluant le Sunitinib.

Les corticosurrénalomes (CS) sont des tumeurs rares et agressives, pouvant exprimer les récepteurs de l’œstradiol, de la progestérone ou de l’hCG. Elles touchent des femmes jeunes qui peuvent souhaiter une grossesse.