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The results show the importance of investigating patients without prior family history for the presence of mutational mosaicism, as detecting this would enable appropriate genetic screening and targeted medical care for at-risk children of mosaic patients.

Reflux disease continues to be one of the most common pathologies in the world. There is much discussion regarding the mechanism of developing and the variety of possible symptoms. In recent years, the use of new technologies, like high-resolution manometry and pH impedance, brought new insights into this disease. Also, there are emerging therapies that are covering the gap between the patients treated with proton-pump inhibitor (PPI) therapy and those who benefit the most from laparoscopic treatment (hiatal hernia, complications of gastroesophageal reflux disease (GERD). Also, most of them are less invasive than a laparoscopic fundoplication. We present a short review of the treatment options in patients who need more than lifestyle changes and PPI therapy.

Introduction Cushing’s disease is a complex endocrine disorder characterized by excessive glucocorticoid secretion caused by an ACTH-secreting pituitary adenoma. Hyperandrogenism and menstrual disorders such as amenorrhea and oligomenorrhea complete the clinical picture of Cushing’s syndrome. Infertility is relatively common, involving complex pathogenetic mechanisms, which differ depending on the cause of hypercortisolism. Case presentation We present the case of a female patient diagnosed with Cushing’s disease during the investigations carried out to assess infertility. After transsphenoidal adenomectomy, the patient underwent treatment with pasireotide and dopamine agonists, achieving normalization of gonadotropin and estradiol levels. Conclusion Current guidelines recommended transsphenoidal adenomectomy as first-line therapy in an attempt to correct hypercortisolism and restore fertility in patients with Cushing’s disease. In case of relapse pasireotide and dopamine agonists can be effective in normalizing the hormonal profile

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