Endocrine Abstracts

Introduction: Growth hormone (rhGH) is an effective treatment for short children born small for gestational age (SGA) who fail to demonstrate catch-up growth by 2–4 years of age. This children usually do not have classical GH deficiency, but either low GH secretion or reduced sensitivity to GH. The goals of therapy are to achieve a normal height in early childhood and an adult height within the normal target range.Objectives: Evaluation of efficacit...

Background: Pituitary adenomas (PA) and pheochromocytomas/paraganglioma (pheo/PGL) can occur in the same patient due to coincidence or of shared pathogenesis. There is evidence that, at least in some cases, classical pheo/PGL predisposing genes, may also play a role in pituitary tumorigenesis. A new condition called ‘the three P Association’ (3PAs) for the combination of PA with pheo/PGL has been recently described in patients with or without succinate dehydrogenase ...

Introduction: Kallmann Syndrome (KS) is a genetically heterogeneous disease characterised by hypogonadotrophic hypogonadism with anosmia or hyposmia. It can be associated with X-linked ichthyosis (XLI) in a contiguous gene syndrome related to a Xp22.3 region deletion, which include KAL1 and STS genes.Case report: We report a case of a 32-year-old male with ichthyosis referred for evaluation of high height (2.07 m), overweight (BMI 29.6 kg/m2) ...

Background: Remote recurrence and metastasis are unusual complications in childhood-onset adamantinomatous craniopharyngioma mainly occurring either along a previous surgical route or by seeding via cerebrospinal fluid.Case description: An 11-year-old female patient initially presented with headache and neck pain as well as nausea over the course of 2 months. A sellar/suprasellar mass (4.0 cm×4.0 cm 5.0 cm) was detected on magnetic resonance imaging...

Introduction: Atypical pituitary adenomas are often characterized by rapid growth and massive invasion of the surrounding structures. Usually, they are associated with poor prognosis and high recurrence rate due to resistance to conventional therapies. When surgery and radiation are ineffective, alternative therapies remain the last line treatment. Lately, a novel chemotherapy with capecitabine and temozolomide was proposed as a highly effective and extending the life of the p...

Introduction: 21-hydroxylase deficiency (21-OHD) is a common inherited disorder accounting for 90–95% of congenital adrenal hyperplasia (CAH) cases. Some cases may be diagnosed in adulthood after the incidental discovery of adrenal masses on computerized tomography (CT).Case report: A 59-year-old male was investigated for incidentally discovered bilateral adrenal masses in an abdomen CT scan, measuring 5 cm on the right and 8 cm on the left adrenal....

Introduction: Acute myeloid leukemia infiltrates the CNS in up to 50% of cases. In contrast, the infiltration of the pituitary gland by leukemia cells is unusual. To date, AML presenting with central diabetes insipidus (CDI) has been rarely reported. Here, we present a patient with AML (subtype clasification is proceeding) presenting with panhypopituitarism and CDI.Case report: A 37-years-old man, with no significant past medical history, presented to Em...

Introduction: Megestrol acetate (MA) is commonly used to promote weight gain in patients with HIV infection. Adrenal insufficiency (AI) has been reported as an adverse effect of MA but this association is not frequently recognized in clinical practice and only few cases develop symptoms of AI. We describe a case of symptomatic AI precipitated by Graves’ hyperthyroidism in a HIV patient on long-term MA treatment.Case report: A 44-year-old man with HI...

Introduction: Bilateral adrenal mass presents a unique diagnostic challenge and carries additional risk of being metastasis. The differential diagnosis of bilateral adrenal mass include primary or secondary neoplastic disorders (adrenocortical carcinoma, lymphoma, metastases), pheochromocytoma, longstanding congenital adrenal hyperplasia and macronodular adrenal hyperplasia, infections such as tuberculosis, histoplasmosis and blastomycosis.Case: Thirty-f...

Introduction: Hepatic metabolism of inhaled corticosteroids (ICS) takes place via cytochrome P450 3A4. Nevertheless, it can be decreased by enzyme inhibitors such as itraconazole or ritonavir, thus leading to an increase in the bioavailability of ICS. This can result in an accumulation of the steroid drug and a cushing’s syndrome.Case report: We present the case of a 48 year old woman with human immunodeficiency virus (HIV) infection on highly activ...

Background: X-linked adrenoleukodystrophy (ALD) is a peroxisomal disorder of beta-oxidation that results in accumulation of very long chain fatty acids (VLCFAs) in various tissues. The clinical phenotype of X-ALD in adults is variable and involves adrenal, gonadal and nervous system dysfunction (adrenomyeloneuropathy, AMN). Patients with AMN typically develop spastic paraparesis due to progressive degeneration of the cerebral white matter.Objective: To r...

Introduction: Hypogonadism is common and occurs prematurely in human immunodeficiency virus (HIV)-infected men, being hypogonadotropic hypogonadism (HH) more frequent. However, HH with very low testosterone has not been described. We present three HIV-infected men with severe HH and normal pubertal development.Case report: Three HIV-infected men, with HIV-1 diagnosis at the ages of 22, 34 and 35 years. Two of them had depressive syndrome, one treated wit...

Introduction: Amiodarone use may be associated with secondary severe organ dysfunction. Thyrotoxicosis develops in 15% cases. Primary bilateral adrenal lymphoma is a rare malignancy. If frequently presents bilaterally and with symptoms of adrenal insufficiency. Symptomatology for both conditions is nonspecific, especially in the elderly, and a high suspicion index is necessary for appropriate diagnosis.Case report: A 78 year old female presented to the e...

Introduction: Hemochromatosis is a disorder caused by an excess of iron deposition in the parenchymal cells that leads to organ dysfunction. In patients with secondary hemochromatosis due to multiple blood transfusions, endocrinopathies such as diabetes mellitus, hypopituitarism frequently develop.Herein we report the case of a patient with B-thalassemia major who developed diabetes mellitus, hypopituitarism and primary hypoparathyroidism due to secondar...

Severe hyperkalemia post adrenalectomy is documented in the literature but not actively sought after in high risk post-operative patients.Case: Fifty-one year old woman with a 12 year history of hypertension and hypokalemia. Her BP was controlled with amlodipine 10 mg OD. Serum aldosterone was 2832 pmol/l with undetectable renin activity leading to aldosterone to renin ratio (ARR) >28 000 pmol/l per ng/ml per h. Creatinine was 75 μmol/l with eGF...

Introduction: Mixed gonadal dysgenesis with 45X/46XY mosaicism is considered to be a rare disorder of sex development. This condition is characterized by a phenotypically very heterogeneous clinical presentation. In fact, the individuals with 45X/46XY mosaicism ranged from phenotypically normal men with azoospermia, going through individuals with genital ambiguity, to women with Turner syndrome.Herein, we describe a phenotypically Turner-like female with...

Background: The Ectopic ACTH Syndromes (EAS) often associated with severe hypercortisolism are really a challenge.Case presentation: We report the case of a 48-year-old woman, newly diagnosed with hypertension, hypokalemia despite renin-angiotensin blockers intake, and complaints of intense fatigue, muscular weakness, and easy bruising, which worse in four months. EAS was biochemically confirmed, but two urinary catecholamines collection were negatives d...

Introduction: ACTH-secreting macroadenomas account for about 4–10% of Cushing’s disease and are often resistant to surgical treatment and radiotherapy. The aim of the study was to present diagnostic and therapeutic difficulties in a case of cyclic recurrent ACTH-dependent Cushing’s syndrome due to atypical pituitary adenoma.Case report: 50-year-old man with visceral obesity was referred to hospital because of poor control of diabetes and h...

Introduction: Autoimmune polyendocrine syndrome type 2 is a rare disease characterized by the presence of autoimmune Addison’s disease in combination with thyroid autoimmune disease and/or type 1 diabetes mellitus, and possible occurrence of other autoimmune non-endocrine disorders. The combination of the three glands diseases is even rarer and is referred to as Carpenter’s syndrome.A long time interval is often present between the manifestatio...

Introduction: We report a case of CAH who developed several complications due to poor control. Proper diagnosis and treatment can enable men with the disease to have a normal life and fertility. Case report 39-year-old patient with a history of primary adrenal insufficiency was admitted to our department because of infertility. Semen analysis performed prior to hospitalization showed azoospermia. The patient did not have medical documentation regarding his disease and was not ...

Pseudoacromegaly is a rare disorder characterized by cutaneous manifestations of growth hormone excess but with normal growth hormone levels or IGF-1. This condition described in patients with insulin resistance, hypothyroidism, pachydermoperiostitis and drug intake such as minoxidil. The hyperinsulinaemia impaired metabolic signalling may activate intact mitogenic signalling pathways and stimulate pathological tissue growth.A 41-year-old man presented w...

Introduction: Somatotropinomas are typically recognized when GH excessively secretion causes acromegaly. «Silent» somatotroph adenomas (immunohistochemical evidence of GH excess without biochemical or clinical evidence) and «clinically silent» somatotroph adenomas (immunohistochemical and biochemical evidence without clinical evidence) have occasionally been reported. The relative frequency of each presentation is unknown.<p class="abst...

Introduction: Sheehan’s syndrome (SS) is a rare complication of postpartum hemorrhage resulting in varying degrees of pituitary insufficiency. The diagnosis of SS has often been overlooked and thus delayed for many years due to its nonspecific signs and symptoms. Lymphocytic hypophysitis (LL) is also an uncommon autoimmune disorder that has to be suspected in women with recent delivery presenting with changes of one or more pituitary hormone secretions, especially when as...

Introduction: GH producing pituitary adenomas are associated with infertility. Hereby the first case in Lithuania, when acromegaly patient got pregnant and delivered is reported.Case presentation: 33-year-old woman visited endocrinologist complaining of secondary amenorrhoea. Due to elevated prolactin – 3016 mU/l (NR<418), bromcriptine treatment was started. The patient discontinued treatment after three months because of restoration of regular ...

Primary adrenal insufficiency could be a rare manifestation of antiphospholipid syndrome (APS) and may be a consequence of bilateral adrenal hemorrhage. Rosai–Dorfman disease (RDD) is sinus histiocytosis with massive lymphadenopathy, a rare histiocytic proliferative disorder with a distinctive microscopic appearance. The retro-peritoneum is an infrequent site of involvement as well as extranodal sites.We report a case of a 39-year-old female patient...

Introduction: Acromegaly patients are known to have an increased risk of malignancies. This may be as a result of the effect of insulin-like growth factor I (IGF-I) on cellular proliferation and apoptosis inhibition. Although there are various reports related with hematological malignancies in children who treated with growth hormone (GH), few data are available about hematological malignancies in acromegaly patients. Here, we report a patient with acromegaly who has been deve...

Primary aldosteronism (PA) is generally caused by an adenoma or adrenal hyperplasia. To discern between these two, selective adrenal vein sampling (AVS) is necessary. Adequate interpretation requires that RAAS-interfering medication be withdrawn. We report a patient with severe PA, where it was not possible to safely withdraw RAAS-interfering medication.Case: A 37-year-old male was referred for AVS. He had documented PA and bilateral adrenal adenomas on ...

Addison’s disease (primary adrenal cortical failure) is the lack of glucocorticoids due to disease of the adrenal gland. At 1855, when Addison described it tuberculosis (TB) was the main etiology. May be we are coming to that time. TB is an infectious disease caused by Mycobacterium tuberculosis. The most commonly (third of the patients) affects the lungs, as well as the other organs. Symptoms of the disease are non specific and are deteriorating slowly, so the d...

Introduction: Paraganglioma (PGL) develops from cells of the parasympathetic and sympathetic system. It usually manifests as a slow- growing and painless mass. PGL may be hereditary, benign, malignant, unilateral or bilateral tumors. In most cases PGL is located around the common carotid artery but may also be located within the middle ear or in the abdomen. Non functional retroperitoneal PGL are rare tumors, usually asymptomatic, and can attain big dimensions. Mutations in th...

We present a case of fludrocortisone-induced hypomagnesaemia in a 27-year old female with Autoimmune Polyglandular Syndrome Type1, manifesting as adrenal insufficiency, hypothyroidism and hypoparathyroidism. Her medications were; Alfalcidol 4 mcg; Levothyroxine 100 mcg; Hydrocortisone 20 mg bid; Fludrocortisone 200 mcg mane and 100 mcg nocte. The nocturnal dose of fludrocortisone was started 4 months prior to her presentation. She presented with a history of abdominal pain and...

Introduction: Adrenomyeloneuropathy (AMN) is a form of X-linked adrenoleukodystrophy (X-ALD) a rare inherited disorder (estimated prevalence 1:20 000 to 1:50 000) characterized by the accumulation of very long chain fatty acids (VLCFA) and affects mainly the nervous system white matter and the adrenal cortex and nearly 100% penetrance in males. Widely varying phenotypes and prognoses often co-occur in a single kindred.Methods: We report a case diagnosed ...

Introduction: Von Hippel-Lindau (VHL) disease is an inherited, autosomal dominant syndrome manifested by a variety of benign and malignant tumors, with an incidence of about 1 in 36 000 individuals and a mean age at presentation of 26 years.We present a family (mother and daughter) case of possible type 2A VHL disease diagnosed with multiple VHL-associated tumors in the absence of an available genetic testing. They both presented in our clinic in 2013 wi...

Introduction: Diamond-Blackfan anemia (DBA) is a rare, inherited normocytic or macrocytic anemia due to aplasia of red cell lineage in the bone marrow. Patients with DBA are diagnosed with a hypocellular bone marrow with a significant absence of erythroid precursors typically in early childhood and require chronic treatment with corticosteroids and frequent blood transfusions. Chronic blood transfusions lead to iron-overload injury and DBA patients, therefore, require lifelong...

Introduction: Primary adrenal insufficiency or Addison disease (AD) is a potentially fatal condition if not diagnosed in time. Rarely, it can arise as a manifestation of antiphospholipid syndrome (APS), caused by adrenal venous thrombosis and consequent hemorrhagic infarction.Case report: We present the case of a 36-year-old caucasian woman with APS diagnosis since she was 24, with history of arterial hypertension and multiple thrombotic events (deep vei...

Cushing syndrome due to ectopic (adrenocorticotropic hormone) ACTH secretion (EAS) constitutes approximately 10% of Cushing’s syndrome (CS). In this group only in about 5% cases pheochromocytoma is the source of ACTH.We present two patients with EAS by pheochromocytoma.1. A 70 year-old woman with 3-months history of malaise, weakness, abdominal pain, loss of weight and appetite, hypertension and diabetes mellitus. One month ea...

Our 42-year-old patient presented with breathlessness and signs of congestive cardiac failure. Her ‘spade-like hands and acromegalic appearance’ were noted on the post-take round. She had headaches, orthopnoea and secondary amenorrhoea. She was a poorly controlled diabetic (so OGTT was not performed), anaemic, and previously had a thyroidectomy.Pituitary profile showed secondary hypogonadism, normoprolactinaemia and normal free T4 indicating ad...

Introduction: The diagnosis of Cushing’s syndrome is often challenging considering that none of the used laboratory tests has an ideal diagnostic accuracy. The complexity of the diagnosis increases in cyclic disorder, which is characterized by repeated episodes of cortisol excess followed by periods of normal cortisol secretion.Case report: A 32-year-old woman with history of arterial hypertension and obesity presented with weight gain, hirsutism, a...

In acromegaly, treatment with somatostatin analogs (SSA) normalizes growth hormone (GH) and insulin-like growth factor 1 (IGF1) secretion in about half of the patients. Usually, the disease relapses biochemically within few months after treatment withdrawal.We present two acromegalic patients, women of 49 and 53 years at diagnosis, respectively, who achieved stable remission of the disease after medical treatment withdrawal. One had a microadenoma, the o...

Case 1: 38 year old was referred for sub-fertility. She had one normal childbirth 5 years ago. There was failure to lactate following the childbirth. There was some puerperal blood loss, but she resumed normal menstrual periods and had no other manifestations of hypopituitarism. Pituitary profile showed normal results FSH 2.7 IU/l; LH 1.5 IU/l; 0900 h cortisol 305 nmol/l/l/ TSH 2.85 μ/l. Prolactin was 85 μ/l. IGF1 18.6 nmol/l. Short synacthen was normal. Previous MRI...

25-years-old lady presented to gastroenterologist with recurrent bouts of vomiting associated with abdominal pains, fatigue, muscle aches and dark tan. Initial biochemical profile and upper GI endoscopy were normal. On examination she had dark pigmentation of the palms well hydrated and haemodynamically stable. No family history of autoimmune conditions. She had traumatic laceration of the liver as a child, otherwise no significant past medical history.A...

43-year-old lady with a history of rheumatoid arthritis (On Sulfasalazine and Infliximab IV every 8/52), was brought in to our hospital following a collapse. She had had acute onset of headache 6 weeks prior to admission with nausea, vomiting and blurred vision but her symptoms had gradually resolved. Her GCS on arrival was 5. Subsequent CT scan brain showed acute right-sided subdural haematoma and subarachnoid haemorrhage and was indicative of coning. She was taken to theatre...

Introduction: Adrenal vascular cysts are rare, in most cases incidentally discovered during abdominal imaging for other reasons. We present a case of adrenal endovascular cyst with initial suspicious features of adrenal malignancy and subsequent management and complications.Case report: This 72-year-old male was initially admitted with a weight loss over 2 months and new onset fever and rigors and right leg pain. He was noted to have an abdominal mass. H...

Introduction: We are presenting a case of presumed ipilimumab induced hypophysitis, after completion of 4th cycle of Ipilimumab for stage 4 melanoma.Case Report: A 72-year-old gentleman diagnosed with stage 4 melanoma, Presented with generalised joint pain and fatigue after 4th cycle of ipilimumab, he had short synacthen test, baseline serum cortisol was <30 nmol/l, 30 min cortisol 379 nmol/l, he was started hydrocortisone therapy 10 mg in the mornin...

Background: Appearance of the secondary pubertal signs before the age of 7 years.Case report: In the Children’s Department of the Republican Specialized Scientific Practical Medical Center of Endocrinology the patient N., date of birth 2012, under the examination during the period from 22 January 2014 to 01 February 2014.Complains at admission were included that increasing size of mammary glands, menstruation is appearanced, f...

Introduction: Adrenal masses are among the most frequent tumours in humans (ACT). A vast majority of these tumours are benign (ACAs). Only a small subset of adrenal masses are malignant adrenocortical carcinomas (ACCs). Tumour size, tumour weight, hormonal function and pathologic criteria are useful clinicopathological criteria that can result in accurate diagnosis of most ACCs and ACAs.Case report: 31-years-old woman, without relevant previous history. ...

Introduction: Radiotherapy to the head and neck area is the standard therapy used for the treatment of nasopharyngeal carcinoma. Hypopituitarism is a well-known late complication of cranial radiotherapy. Although very rarely, it may be observed following radiotherapy to the head and neck area, as well.Case report: A 53-year-old man was referred to our endocrinology department for hyponatremia and low free thyroxine (T4) with normal thyroid- st...

Introduction: Congenital adrenal hyperplasia (CAH) is an inherited recessive disorder of adrenal steroidogenesis, generally caused by total or partial deficiency in 21-hydroxylase, due to deletions or mutations of CYP21 gene. Some studies suggest that the association between CAH and multiple sclerosis (MS) could be nonincidental: a possible MS susceptibility locus is on chromosome 6p21, on which the CYP21 gene is located.We report the c...

Almost all cases of prolactinomas are benign intrasellar micro- or macroadenomas. Very rarely benign prolactinomas are located outside the sella and in most of these cases the tumors are located in the sphenoidal sinus.We here report a 35 year old woman who presented to the clinic with secondary amenorrhoea and galactorrhoea. Initial laboratory testing revealed mild hyperprolactinemia between 1100 and 1600 μU/ml and hypogonadotropic hypogonadism wit...

Introduction: Sarcoidosis is a multisystem noncaseating granulomatous disease with prevalence of 40/100 000. One percent of patients with sarcoidosis have isolated neurosarcoidosis, few cases involve the hypothalamus/pituitary (65 reported cases from 2002 to 2014). We present a case of hypothalamic-pituitary sarcoidosis with hypothermia (one case reported between 2002 and 2014), leptomeningitis, diabetes insipidus and pan-hypopituitarism.Case report: Fam...

Introduction: Rathke’s cleft cyst is one of the pituitary non-adenomatous tumors that found in about 20% of pituitary glands at autopsy. Symptomatic Rathke’s cleft cysts are rarely, but these cysts can cause serious medical problems associated with compression of the pituitary gland, pituitary stalk, optic nerve or hypothalamus. Here, we report a rare case of 73 years old man with sudden onset headache due to Rathke’s cleft cyst present with symptoms and radiolo...

Objective: To report a case of hypogonadism reversal and spontaneous puberty in a craniopharyngioma patient who suffered from hypopituitarism as a result of complete surgical resection.Methods: A 13-year-old boy with hypopituitarism was evaluated for right testicular sensitivity.At the age of 6 the child presented with growth arrest and a craniopharyngioma causing pituitary insufficiency was diagnosed. Treatment with hydrocortisnon...

Introduction: Langerhans cell histiocytosis (LCH) is a rare disorder with variable clinical presentations. Among the endocrine compromise, the LCH has a predilection for the hypothalamic-pituitary axis. However, primary thyroid involvement is rare and usually related to multisystemic disease.Case Report: We present a 30-year-old woman who requested a medical consultation because of polyuria and was found to have central diabetes insipidus (CDI). The pati...

Background: Pregnancy with Cushing syndrome (CS) is rare because infertility is associated with hypogonadotrophic hypogonadism by cortisol and androgens excess. Here we reported the cases of CS that presented signs and symptoms of CS after delivery.Case reports: The first case is a 30-year-old woman who presented 8 months after second baby delivery amenorrhea even though she stopped breastfeeding. For 3 months before her visit, she gained weight and had ...

Langerhans cell histiocytosis (LCH) is a rare histiocytic disorder most commonly characterized by osteolytic bone lesions. Central nervous system (CNS) involvement observed at 6% and Diabetes insipidus (DI) one of the important signs of CNS involvement.A 40-years-old woman presented with polyuria, polydipsia and headache. Water deprivation test was compatible with DI. Magnetic resonance imaging (MRI) shows 4×4 mm focal thickening at the distal infun...

Objective: The management of pituitary tumors causing Cushing’s Disease are a multidisciplinary challenge to clinicians with neurosurgery as a first line treatment followed by the radiotherapy and pharmacotherapy including chemiotherapy.Such tumors are difficult to treat with high rate of recurrence. To date only 25 patients with Cushing Disease treated with the new alkylating agent temozolamide (TMZ) have been reported.Materials and methods: Sixty-...

Introduction: Klinefelter syndrome is known as the set of symptoms that result from two or more X chromosomes in males. There is no known association of this syndrome with GH hypersecretion. The most remarkable symptom is gigantism and it can also be observed in androgen deficient states as such as the Klinefelter syndrome and some more genetic syndromes such as the Sotos syndrome, the Marfan syndrome, the homocystinuria, and the fragile X-syndrome. Herein we presente...

Introduction: In the last few years new imunomodulatory drugs are used for the treatment of metastatic melanoma. One of these drugs is ipilimumab, a monoclonal antibody that activates the immune system by targeting CTLA-4 protein receptor. This monoclonal antibody is very effective but there is a higher risk of endocrinopathies like an adverse effect of treatment, mostly hypophysitis and hypothyroidism.Case: We present a 68-year-old patient with metastat...

Introduction: Hypophysitis is a rare entity, more common in women in pregnancy and the postpartum period and can cause various symptoms such as headache, hypopituitarism and visual disturbances. Stalk thickening and homogeneous enhancement of the gland are the characteristic magnetic resonance imaging (MRI) findings. The diagnosis is based on the clinical picture and on follow up MRIs. Usually involves the anterior pituitary alone, whereas isolated-posterior-pituitary-involvem...

Introduction: The coexistence of pituitary adenoma and meningiomas is very rare. It is debatable if meningiomas result as a consequence of hormone dependent growth or secondary to radiation.We report a rare case of coexisting brain tumors: a prolactin secreting pituitary adenoma and two meningiomas in a 54-year-old female patient.Case report: Onset at 46 years with bitemporal hemianopsia, without other clinical complaints. MRI conf...

Malignant pheocromocytoma is a rare and problematic disease because it is diagnosed only in the presence of metastases, with no definitive histological or cytological criteria of malignancy. It typically metastasizes to bone, liver, lung and lymph nodes.A 38-year-old woman presented for hypertension (max sBP=160 mmHg), palpitation and dyspnea, with family antecedents of mammary cancer. Clinical examination was normal with the exception of palpable adenop...

Background: Gigantism indicates excessive secretion of growth hormone (GH) during childhood Pituitary gigantism is very rare and the description of the disease is limited to small series and case reports. Here, we report a case of pituitary gigantism in a child revealed with visual defect.Case report: A 14-year-old boy presented with headache and left visual loss. On examination, he had visual acuity in his right eye of 2/10. His height was 178.0 cm (3 c...

Introduction: Prolactinoma is the most common form of all pituitary tumors, and currently, treatment with cabergoline constitutes first choice therapy for prolactinoma. Surgical approach is recommended when medical therapy fails or visual disturbance due to pituitary mass develops. Here we present a case of macroprolactinoma who developed empty sella and optic chiasm protrusion secondary to cabergoline treatment.Case: A 20-year-old male patient referred ...

Introduction: Hypopituitarism is characterized by decreasing of pituitary hormones, which can result from diseases of the pituitary gland or the hypothalamus. The prevalence of hypopituitarism is 30–45 out of 100 000 in the world wide. Causes of panhypopituitarism are non-tumoral hypotalomopituitary reasons (50%), pituitary tumors (43%) and extra-pituitary tumors (7%). Here we want to present a very rare case of pan hypopituitarism; pituitary stalk interruption syndrome (...

Introduction: Hyponatremia’s etiological diagnosis remains a challenge in the real life. Our aim was to report a patient who was sent for severe behavioral disorders revealing hyponatremia due to an isolated deficit in aldosterone. This observation emphasizes the extreme rarity of the disease which deserves to be reported.Case report: A young patient aged 34 with a history of autoimmune thyroiditis consulted for an acute and severe psychiatric syndr...

The patient had been diagnosed with congenital adrenal hyperplasia (CAH) at age 5 because of precocious of puberty. He had been receiving dexamethazone and fludrocortisone therapy over the course of his life. When he was 16 years old, a scrotal ultrasound had been performed for the evaluation of bilateral testicular pain which revealed multiple sharply marginated, hypoechoic masses throughout both testes. A biopsy of left testis had been reported as ‘Leidig cell tumour&#1...

Objective: To describe a 32-year-old patient presenting to endocrine clinic as painful gynecomastia.Method: We present clinical and radiological course of a rare case of gynecomastia secondary to HCG producing lung tumour.Result: A 32-year-old patient presented to endocrine clinic with symptoms of painful lumpiness of nipples for the last 6 months. There is no history of any milk or blood discharge from the nipples and he has not n...

Introduction: Central diabetes insipidus (CDI) is a rare complication of acute myeloid leukemia (AML) occurring in less than 0.6% of patients. It is associated with genetic changes in chromosomes 3 and 7. CDI may precede; occur simultaneously or after the diagnosis of AML.Case report: 51-year-old man, with no relevant past medical history, began complaining with polyuria, polydipsia, weakness and weight loss in March 2015.The patient was evaluated in the...

Introduction: Adrenal myelolipoma is a rare benign tumour composed of mature adipose tissue and haematopoietic elements developed within the adrenal gland, usually unilateral, asymptomatic, and non-functional. Their real incidence is unknown.Case report: A 56 year-old female was admitted to our surgery department for abdominal distension and the presence of a large palpable tumour in the right abdomen discovered during an abdominal ultrasonographic check...

Introduction: Acromegaly is a chronic, debilitating disorder caused by excessive growth hormone (GH) production predominantly due to a benign pituitary adenoma. The overall annual incidence of acromegaly is approximately 3.3 cases/million, with a prevalence of 58–130 cases/million people. Early carbohydrate metabolism disorders (ECMDs) are frequently associated with acromegaly. ECMDs – defined as IFG, IGT or their combination – its prevalence in patients with ac...

Introduction: The diagnostic procedure of primary aldosteronism (PA) includes one of four confirmatory tests, of which the saline suppression test (SST) seems to be the most convenient one. Current guidelines recommend SST to be performed in a recumbent position. However, a recent preliminary study demonstrated a higher sensitivity of SST when performed in the upright (i.e. seated) position. Here, we report a case of posture-responsive PA with a negative recumbent SST but clea...

Introduction: Adrenal medullary hyperplasia (AMH) is a rare syndrome of catecholamine excess. Adrenal overgrowth is usually bilateral. Due to similar clinical signs, laboratory results and radiological adrenal picture, AMH can be misdiagnosed as pheochromocytoma. The only method that allows determining a proper diagnosis of AMH is pathologic examination. It is regarded as a precursor of pheochromocytoma and has been reported as a component of MEN2.Aim: T...

Introduction: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive diseases characterized by enzyme deficiencies in cortisol secretion. The most common form is 21-alpha hydroxylase deficiency. Here, we report a patient with undertreated CAH and bilateral large adrenal masses.Case report: 34 years old male patient diagnosed with CAH and testicular anorchia at the age of 7 admitted to our clinic for general weakness. Hydrocortisone treatm...

Distinguishing Cushing disease from pseudo-Cushing syndrome still remains a challenge, especially in some specific cases when absorption or compliance of dexamethasone used in diagnostical tests are questionable. Several versions of an intravenous (IV) test have been utilized and serve both in the initial and differential diagnosis of Cushing’s syndrome.We report a 59-year-old patient with macroadenoma of pituitary gland (revealed accidentally on MR...

Hair loss after surgical treatment for acromegaly has been rarely described. We report a case of a patient with acromegaly that presented with hair loss after surgical treatment.We describe a case of a 73-year female that was diagnosed with acromegaly. Transesphenoidal surgery was performed with complete tumour resection and no immediate complications. Postoperative IGF -1, GH and OGTT for GH were measured at 12 weeks confirming biochemical remission. Th...

Introduction: Cushing’s disease (CD) is rare systemic disease characterized by an endogenous hypercortisolism and it is the most common cause of Cushing’s syndrome (CS). CS is encountered more often in women than in men, associated with an increased morbidity and mortality. Hence, early diagnosis and proper management of the condition is crucial. Here, we present a case of CD, who had abdominoplasty and reduction mammoplasty but went undiagnosed long time with correc...

Background: Hemangiopericytoma (HPC) is a malignant vasculary tumor originate from pericytes around the capillary and venules. İntracranial hemangiopericytomas usually arise from meninges, rarely they locate periventricular, suprasellar or sellar. Because of the malignancy potential, the differential diagnosis is important. A rare case of sellar HPC mimicking non-functional pituitary adenoma will be presented.Case report: A 45 years old woman has a...

Introduction: Malignant tumors of pituitary are very rare diseases.Case report: We present the case of a 37 years male that progressed in 6 months from normal life to erectile dysfunction and severe panic attacks. The lab panel showed severe insufficiency of testosterone and thyroid hormones. MRI examination revealed a large pituitary tumor, extending to hypothalamus and temporal lobe, also to cavernous sinus. The tumor was treated for 30 days with Caber...

Introduction: Legg calvé perthes (LCP) is a disease characterized by idiopathic avascular necrosis of the proximal femoral epiphysis caused by decreased blood flow. More frequently in boys between 2 and 12 years of age. LCPD is of unknown etiology.We present two male patients of LCP associated with pituitary disorders.Case presentation: Case 1: g.i.c., 8 years 8 month, was first addressed to the endocrinology department for in...

Introduction: ACC is a rare tumour with a incidence of 0.7–2.0/per million, more common in women between 40 and 50 years. Can be diagnosis as a incidentaloma or for clinic of abdominal pain and autonomous o hormone secretion symptoms (Cushing syndrome and hirsutism). We present the management of a particular case of hirsutism for ACC.Case report: Sixty four year old woman referring increase hair and a deeper voice for 1 year. As personal antecedents...

Introduction: TSH-secreting pituitary adenomas are rare pituitary functioning tumors accounting for <2% of the pituitary adenomas. Their association to meningiomas is a very rare condition.We report a case of 55-year-old woman who had multinodular goiter with mild symptoms of hyperthyroidism. Blood tests showed inappropriate secretion of TSH and magnetic resonance imaging (MRI) revealed a pituitary tumor with maximum diameter of 13 mm that was extirp...

Introduction: It is known that about 75% of cases of endogenous Cushing síndorme to a pituitary adenoma (HA) ACTH-producing, 15% to ectopic ACTH and 10% is due to adrenal adenoma.Case: The patient was 64 years old, derived from Diabetes Mellitus type 2 of about 16 years of history with an unwieldy+hypertension diagnosed in 2007 with no physical signs compatible with hypercortisolism and incidentally detected a left adrenal adenoma 2 cm. Hormonal blo...