Endocrine Abstracts

46, XY complete gonadal dysgenesis, also known as Swyer Syndrome, is characterized by the presence of normal female external genitalia at birth, late puberty and primary amenorrhea. Spontaneous menses (due to hormone-secreting tumor) and breasts development occur in rare cases. With proper hormonal substitution, patients could carry pregnancies achieved through IVF with donor oocytes.Case presentationFemale patient, aged 22, addres...

Introduction: Patients with clinical clues suggesting the possible presence of secondary hypertension should undergo a more extensive evaluation, because in this case some of these disorders can be cured, leading to partial or complete normalization of the blood pressure.Case description: We report a case of a 43-year-old man, who suffered for years of hypertension despite concurrent use of adequate doses of three antihypertensive agents from different c...

Introduction: Iron-induced hypophosphatemia is a well-known adverse effect in patients receiving parenteral iron supplementation. Initially thought to be transient and mild, it seems that in certain cases, especially in patients who require repeated intravenous iron administrations, it can lead to spectacular symptomatology and serious complications.Case report: A female patient, aged 61 was referred for intense muscle and bone pain, severe impaired mobi...

A 36-year-old Caucasian male was referred in November 2021 to our clinic, for investigations regarding his recent genetic diagnosis of congenital hyperinsulinism, revealed by genetic testing, performed after the birth of couple’s second child presenting with recurrent hypoglycemia.The female newborn diagnosed with fetal macrosomia (birth at 38 weeks, 4.3 kg), required follow-up and further examinations.A massive parallel sequencing on panel of 4867 genes using Roche platf...

Introduction: The classical triad of pheochromocytoma comprises paroxystic headache, palpitation, and diaphoresis. It is a common cause of secondary hypertension. Glycemic abnormalities are not rare. Hyperglycemia and diabetes can be the presenting features of pheochromocytoma. However, cases of hypoglycemia are also described. Malignant tumors account for about 10% of cases.Case description: In this report, we present a case of a 41-year-old man referre...

Introduction: Central diabetes insipidus is characterized by partial or total ADH deficit of various origins. The clinical picture is dominated by massive polyuria with diluted urine, increased thirst and daily water consumption reaching impressive quantities. Case report: We report the case of a 16 year-old male teenager presenting with excessive thirst and water intake of 8 -10 l/day and voiding large quantities of diluted urine. Symptoms started gradu...

Introduction: MEN1 is a rare syndrome characterised by hyperplasia or neoplasm of the parathyroid glands, pituitary, pancreas or duodenum and can associate, less frequently, phaeochromocytoma, thymic or bronchial carcinoids, multiple lipomas, cutaneous angiofibromas and thyroid adenomas.Case report: A 47-year-old woman with MEN1 presenting parathyroid recurrent adenomas, a pituitary prolactin-growth hormone cosecreting macroadenoma, associated with an in...

Given the increasing incidence in psychiatric pathology, adverse reactions of psychotropic medications, especially the metabolic and endocrine side effects, are encountered more frequently in clinical practice. We present the cases of two female patients with psychiatric pathology, in whom the specific treatment was accompanied by significant endocrine adverse reactions, making the tumoural differential diagnosis very difficult. The first case is of a patient aged 61 years, kn...

Introduction: Although thyrotoxicosis is considered to be a very rare finding in a patient with thyroid cancer, there are several reports regarding this unexpected association in specialty literature. A frequent cause of thyrotoxicosis in patients with cardiac disease is amiodarone-induced thyroid dysfunction. The mechanism underlying this adverse reaction can be attributed to high iodine content and the direct toxic effect of the drug on thyroid cells.C...

Adult-onset hypopituitarism is a frequently delayed diagnosis because of the insidious debut and non-specific symptoms, frequently attributed to normal aging or many other pathologies - fatigue, malaise, cognitive impairment, decreased libido. Left untreated, it can have severe consequences with vital impact.Case-report: We present the case of a female patient, aged 69, who was initially addressed for evaluation of hypercalcemia. She had had four live bi...