Endocrine Abstracts

Introduction: Neurofibromatosis type 1 (NF1) is the most common autosomal dominant disease. The endocrine manifestations of NF1 are represented by pubertal abnormalities and pheochromocytoma. We report a case.Observation: Mr. G.A, age 28, consulling for a grade 2 HTA evolving for 3 years. The anamnesis notes paroxysmal crises made of Ménard triad. The exam notes a correct blood pressure, 18 coffee latte tasks, lentiginous tasks. Two neurofibromas of...

Congenital adrenal hyperplasia (CAH) describes a group of autosomal recessive disorders where the cortisol biosynthesis is impaired. There are two forms of CAH: the classic form, which includes the salt-wasting and the simple virilizing forms, and the nonclassic form. CAH due to 21-hydroxylase deficiency accounts for 95% of cases. Treatment of the classic form of CAH is targeted at replacing cortisol and aldosterone and effectively controlling excess androgen symptoms by using...

Hypertension or high blood pressure (HBP) has been counted as the chief cause and most significant factor in the development of cardiovascular diseases (CVDs) worldwide. Stress has been defined as an inner process that happens when a person is faced with an ordinant dictation that is perceived to go beyond the resources available to efficaciously respond to it. Cortisol is a hormone released from the zona fasciculata of the adrenal cortex during the times of stress. This biolo...

Introduction: Adrenocortical carcinoma is a rare tumor with an incidence of 1 per million per year. It occurs in two age groups: in children under 5 years old and in adults from 4th to 6th decade of life. It is potentially curable at an early stage, unfortunatelly, about 70% of these tumors are detected late. Functional carcinomas are present with about 60% with endocrine syndrom: Cushing syndrome (30%); Virilization and premature puberty (22%); Feminization (10%); Primary hyp...

Introduction: Hypoglycaemia in non diabetic patients is a decrease of blood glucose below a threshold of 0.5 g/l, corresponds to a pathological situation, with many etiologies and whose management constitutes a real challenge, both symptomatic and etiological. The purpose of this study is to highlight the profile of these hypoglycaemia and their management.Patients and method: We have collected cases of hypoglycaemia in non-diabetic subjects encountered ...

Primary bilateral macronodular adrenal hyperplasia (PBMAH) is a rare cause of Cushing syndrome and in 25–55% of cases is caused by mutations in ARMC5 gene. A 37 y.o. female was referred to our center with a diagnosis of ACTH-independent Cushing syndrome. Laboratory testing confirmed endogenous hypercortisolism (urinary free cortisol 5063.5 nmol/24 h (60–413), midnight salivary cortisol 56.6 nmol/l (0.5–9.4), midnight serum cortisol 1427 nmol/l (46–...

Depression can be an early manifestation of Cushing Syndrome (CS) and found to correlate with the severity of the clinical presentation. Rates for major depression vary from 12% to 50–70%. A 37-year-old male was admitted for sad mood, affective lability, suicidal ideation without a plan and micromanian incurability ideation. The medical history of the patient revealed an old anterior-lateral myocardial infarction last year, with percutaneous coronary intervention on diago...

Introduction: Adrenal cortical carcinoma (ACC) is a rare malignant neoplasm of epithelial origin, derived from the adrenal cortex, with a high tendency to local invasion and distant metastases.Aim: The aim was to assess the effect of serum mitotane concentration during mitotane therapy and identify prognostic factors on the survival of ACC patients.Material and methods: It was a multifactorial analysis of patients from a single end...

Introduction: It is presumed that hiccups are a vestigial reflex in mammals. They are rather common in healthy subjects. Persistent hiccups (lasting >48 h) are a serious clinical sign, and documented in a number of debilitating conditions. According to the available literature persistent hiccups in Addisonian crisis have been previously documented in only two patients.Case report: In July 2018, a 39 year old man checked into the ER complaining of nau...

Introduction: Acquired modifible long QT syndrome (LQTS) might be caused by hypocortisolism but also drug-induced. Unique genetic association between them is the background of both. The aim of this case report is to present the patient with Addison disease and LQTS not responding on increased dosage of hydrocortison susbstitution therapy.Case report: We report a female patient, 65 years old (1950y.). At the age of 34y. (1984y.) Morbus Addisoni was diagno...

Introduction: Adrenal hematomas are a relatively rare clinical condition and its prevalence has been reported to be about 1%. Although various causes have been proposed, the ethology and pathophysiology are still not fully understood, and the symptoms range is very variable, from asymptomatic situations to haemorrhagic shock. Imaging is a challenging method to establish the diagnosis of adrenal hematomas, and in most cases, it is only possible after surgery. Surgery is routine...

Introduction: Classic congenital adrenal hyperplasias (CAH) are mostly diagnosed in the first months/years of life and require a lifetime follow-up.Case report: A 33-year-old Caucasian man was admitted twice in the previous year to the emergency department; the first episode due to an acute tonsillitis, the second episode due to a lower respiratory tract infection, both associated with hyponatremia (125 mmol/l). Common causes of hyponatremia were exclude...

Adrenocortical carcinoma is an aggressive tumor of endocrine system with an annual incidence of 1–2 cases per million. The most significant prognostic factors are tumor size, disease stage at the time of putting the diagnosis and treatment method. Advanced age of the patient, and hormonal activity of the cancer are also related to poor prognosis.Materials and methods: In our study we collected data of 12 patients who were treated in Endocrinology Cl...

Cushing’s syndrome is a collection of signs and symptoms due to prolonged exposure to cortisol. It can be difficult to diagnose, particularly endogenous Cushing’s syndrome, because other conditions share the same signs and symptoms. Diagnosing Cushing’s syndrome can be a long and extensive process, it’s treatment may be also an important challenge. We present the case of a 49-year-old man, with a history of asthma and pulmonary cribriform adenocarcinoma (ra...

Neuroendocrine tumors (NETs) represent the second most common malignancy of the small bowel (SB) and despite their indolent nature, NET liver metastasis (NETLMs) will develop in 50 to 60% of patients. Although there have been recent advances in the therapeutic armamentarium in patients with advanced NETs, surgical resection remains the only potentially curative intervention for patients with NETLMs. However, patients whose liver has been significantly invaded by the tumour (mo...

Introduction: Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant disorder with an estimated prevalence of 1 per 30,000 in the general population. MEN2 is subclassified into two distinct syndromes: types 2A (MEN2A) and 2B (MEN2B). MEN2A and 2B are inherited in an autosomal dominant pattern with very high penetrance. In both syndromes, there is an occurrence of multicentric tumour formation in all organs where the RET proto-oncogene is expressed.<p ...

We hereby report a rare case of ectopic adrenocorticotropic hormone (ACTH) syndrome due to recurrence of olfactory neuroblastoma which has few published reports. The female patient had surgery of olfactory neuroblastoma at 31 years old without the symptom of Cushing’s syndrome. Hypercortisolemia during treatment for recurrence of olfactory neuroblastoma were observed at 40 years old. The clinical findings were as followed; full moon face, central obesity, buffalo hump, an...

Adrenocortical carcinoma (ACC) is a rare, aggressive tumor with poor prognosis, affecting 0.5–2 cases/106population/year.Objective: To analyse retrospectively characteristics, management and outcome of ACC patients, followed in our center between 2010–2018.Material and methods: The medical records related to diagnosis, treatment and follow-up of nine patients of 59.2±13.8 years with histological diagnosis ...

Context: ACTH-producing neuroendocrine cancer (NEC) of the thymus is rare. Lymph nodes and bone are most common metastatic sites. ACTH-secreting thymic NEC with pancreatic metastasis was only reported in one case. Most cases presented with florid Cushing syndrome (CS). Our case had thymic NEC with pancreatic metastasis, presenting with intermittent flush instead of typical CS. We demonstrate the comprehensive information of somatostatin receptors (SSTR), three different kinds ...

Introduction: The adrenocortical carcinoma (ACC) is a primary malignant tumor developed in depends of the adrenal cortex, defined by a Weiss score ≥3. Despite the therapeutic progress, its prognosis is still severe.Patients and methods: This retrospective descriptive study evaluated 4 patients with adrenal corticosteroid followed in the endocrinology department of Sfax - Tunisia between 2010 and 2018.Results: There were 3 wom...

Objective: Diagnosis of primary hyperaldosteron in patients with malignant arterial hypertension.Materials and methods: The study included 125 patients with hypertension (68 men, 57 women, ages 16–74). All patients underwent biochemical hormonal analyzes of blood and ECG, MSCT. All patients tested ARS, out of 125 in 18 patients with ARS> 30. Patients with primary hyper aldosteronism 18 of them women 7, men 11, patients age 34±8.8 years, hyp...

Abstract: A 41-year-old woman admitted Ginekological Clinic to surgical intervention due to ovarial enlargement. It was suspected diagnoses of Acromegalia according to the clinical manifestations: amenorrhea, headache, dizziness, enlarged phalangeal digits. nose. The patient underwent laboratory and instrumental investigations. MRI showed the pituitary adenoma (1.4×1.0×1.0 cm), GH, Prolactin and TSH were sharply increased, Ultrasound revealed remarkably enlarged ovar...

The aim: To study the peculiarities of the clinical manifestations of hypercortisolism in the case of a mass formation in the adrenal gland.Materials and methods: Children’s Endocrinology of the Republican Specialized Scientific and Practical Medical Center of Endocrinology was hospitalized a boy 5 years old with a diagnosis of extensive tumor of the left adrenal gland.Results: At the time of the examination, the patient compl...