Endocrine Abstracts

Background: Currently, no effective medical treatment exists for recurrent and aggressive craniopharyngiomas that are resistant to conventional therapies, including repeat surgeries and adjuvant radiotherapy (RT). Temozolomide is an alkylating chemotherapeutic agent and is used routinely in the management of high grade gliomas. The response to temozolomide is suggested to be dependent on the tumoral expression of O-6 methylguanine DNA methyltransferase (MGMT). Evidence ...

Introduction: Tolvaptan is an oral vasopressin V2 receptor antagonist which offers a targeted approach in regulating body water and serum [Na+] and is a novel treatment for hyponatraemia secondary to SIADH. Here we report our first case experience with tolvaptan comparing its efficacy with conventional treatments in the same patient.Case report: A 52-year-old lady was admitted with confusion, nausea and vomiting. She gave a 3-month ...

Background: MEN-1 is a rare disease characterized by parathyroid adenoma or hyperplasia, pituitary adenoma and pancreatic neuroendocrine tumors (PNET). Gastrinomas are the most common functional PNET in MEN-1 disease. Insulinomas and glucagonomas constitute approximately 20 and 3% of PNET’s in MEN-1 disease. Most of insulinomas are benign in nature but about 70% of cases of glucagonomas present with metastasis at diagnosis. Coexistence of various PNET’s are very rare...

Introduction: Adrenocorticotropin (ACTH)-independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing’s syndrome, commonly involving the aberrant expression of several membrane-bound adrenal receptors. Recent studies have investigated whether the latter is also implicated in the renin-independent aldosterone secretion of hyperaldosteronism cases.Case report: A 35-year-old man presented to our department for evaluation of new-onset...

Virilizing ovarian tumors are a rare cause of hyperandrogenism; they account for 1–2% of all ovarian tumors being the Leydig cell tumor the most common one.We report the case of a 76-year old woman with type 2 diabetes that was referred for androgenic alopecia with 3 years evolution and a recent facial, peri-areolar and dorsal hirsutism. A diagnosis of hypertension was made 18 months previously, and she was on a four anti-hypertensive drug regimen. ...

Introduction: There are fewer than 20 reported cases involving congenital adrenal hyperplasia (CAH) and myelolipoma. This is a rare benign tumor, often located on the adrenal, consisting of mature adipose and hematopoietic tissues. Its origin is unclear; the most accepted theory is the occurrence of blood capillaries reticuloendothelial cells metaplasia, in response to infection, stress or necrosis. In a small number of cases ACTH hypersecretion coexists.<p class="abstext"...

Introduction: Agenesis of the dorsal pancreas, with the absence of the pancreatic body and tail, is a very rare developmental anomaly. To date, only 51 cases have been reported in the English literature. This anomaly can be a cause of diabetes mellitus.Case report: A 19-year-old Japanese male visited our department because of glucosuria that had been detected during a routine school health check. The patient had undergone cardiac surgery for atrial and v...

Introduction: Leydig cell hypoplasia (LCH) is a rare autosomal recessive condition that interferes with normal development of male external genitalia in 46,XY individuals. It is mediated by mutations in the luteinizing hormone receptor gene (LHCGR), most frequently located in the coding sequence, resulting in impairment of either LH/CG binding or signal transduction.Case report: We report a 32-year-old female which presented with primary amenorrhea, fema...

Introduction: It has been stimated that up to 30% of idiopathic Addison disease in young boys is due to X-linked Adrenoleukodystrophy. We report the case of a 31-year-old previously asymptomatic man, who presented with hyperpigmentation and fatigue. Investigations revealed hyponatraemia (116 mEq/l), low serum cortisol (2.6 μg/ml) and high ACTH levels (>2000 pc/ml), plasma potassium was 4.37 mEq/l. Adrenal antibodies were absent and abdominal computerized tomography sc...

Background: The prevalence of precocious puberty (PP) and its relationship to optic pathway tumours in patients suffering from neurofibromatosis type 1 (NF1) is significantly greater than in normal population.Objectives: We present a rare case of precocious puberty in neurofibromatosis type 1 which is not associated with optic pathway tumour but with a tuber cinereum hamartoma.Case report: We present the case of a 5-year and 5-mont...

Hypoparathyroidism is rare endocrine-metabolic disease, characterized by hypocalcemia, hyperphosphatemia and low level of the parathyroid hormone (PTH). Hypocalcemia sometimes is associated with calcifications at the basal ganglias (Morbus Fahr), leading to epileptic seizures, hypocalcemic catharacta and depression. The patient was admitted at the Clinic of endocrinology in Skopje, due to history of long term epileptic seizures, treated with antiepileptic therapy, operated fro...

Introduction: Liquid silicone is an inert material that as minimal local tissue reaction, but it is the systemic complications, such as silicone embolism and acute respiratory distress syndrome (ARDS) that carry the highest associated morbidity. Liquid silicone is frequently used for illegal cosmetic procedures in transsexual patients, and the most common injection sites are the hips, buttocks, face and breasts.We report a case of silicone embolism with ...

Intrathyroidally located parathyroid carcinoma is extremely rare cause of primary hyperparathyroidism. Multifocal papillary and follicular thyroid carcinomas are rather common.We report a case of 40-year old man presenting with substantial weight loss, anemia and multiple osteolytic lesions of both tibias. Peak serum calcium level was 5.0 mmol/l, parathyroid hormone (PTH) level was 989 pg/ml. Left thyroid lobe was firm and enlarged. Routine percutaneous ...

Introduction: The risk for the development of germ cell tumors is hard to predict in patients with disorders of sex development (DSD) and their optimal management has been a continuous matter of debate. The risk varies between unknown and 40–60% in Denys-Drash/Frasier syndrome. This malignant potential opposes itself firmly to the recent interest in a more conservative approach regarding gonadectomy.Case presentation: We present the case of a 20-yea...

Introduction: The contrast agents iopanoic acid and ipodate are potent inhibitors of thyroid function, reducing type I deodinase T3 generation, inhibiting thyroid liberation of T4 and T3, and T3 receptor binding, with off-label use in hyperthyroid emergencies. However, since the interruption of iopanoic acid production this year, neither agent is currently available in Spain.Case report: A 34-year-old male was ...

Introduction: Severe hypocalcemia is a life threatening condition, usually symptomatic with cardiovascular and neuromuscular manifestations. Varying clinical presentations and concomitant infections, however, might obscure the right diagnosis, delaying early treatment.Case: A 51-year-old African male presents himself at the emergency department (ED) with complaints of a soar throat, a productive cough and a striking pinched voice. Investigation revealed ...

Introduction: Thyroid storm is a potentially fatal disorder if treatment is not initiated promptly upon assessment at the emergency department (ED).Case: A 20-year-old young woman is referred to the ED with rapid acceleration of complaints of palpitations, fever, diarrhoea and agitation, which had been present since several weeks.On physical examination we saw an uncomfortable, restless woman with a tachycardia of 170/min, and a fe...

Introduction: Primary hyperparathyroidism affects 1% of the world’s population, with majority of cases due to benign parathyroid adenomas. Parathyroid cancer is a rare cause.Case report: This case report describes a 53-year-old lady presenting with nonspecific bone pains, whose initial workup revealed mild hypercalcemia and MRI lumbosacral spine suggestive of multiple myeloma. Subsequent work up, including two bone marrow examinations and serum prot...

Introduction: The most common cause of primary hyperparathyroidism is parathyroid adenoma. Unfortunately, between 11 and 22% of these adenomas are located in ectopic positions. In this report, we describe a case diagnosed in our department with symptomatic primary hyperparathyroidism due to an ectopic parathyroid adenoma localized in thymus.Case presentation: A 21-year-old woman was referred to our clinic for investigations, due to multiples osteoclastom...

When patient was an 14-year-old, he presented with a short stature and underdeveloped external genitalia. The patient had not undergone normal pubertal development. Hormonal studies and clinical examination revealed the findings of anterior and posterior pituitary hormone deficiency: ADH, LH (0.2 mIU/l), FSH (1.22 mIU/l). Since then patient took different therapy for diabetes insipidus. Secondary sexual characters developed during patient received gonadotropin for a very short...

Introduction: Congenital adrenal hyperplasia (CAH) due to 21 hydroxylase deficiency is one of the most common autosomal recessive hereditary diseases. There are two main forms of CAH: early onset, the classic variety, and late onset or non classic type. Here, we aim to describe the case of a young lady with features of both varieties of CAH.Case report: Twenty-three-year-lady of Asian descent presented with polymenorrhagia since menarche (age 13 years), ...

Introduction: Autoimmune polyendocrine syndrome type II (APSII) is more common than APSI. It occurs more frequently in female than in male patients, often has its onset in adulthood, and has familial aggregation. Schmidt’s syndrome is a subset of APSII, usually associated with primary hypothyroidism, primary adrenal insufficiency, and often, type 1 diabetes. This case describes the interesting evolution of autoimmune polyendocrine disease (APED) in a young lady with long ...

Introduction: It is supposed that primary hyperparathyroidism (pHPT) during pregnancy is associated with significant maternal and fetal risks as high as 67 and 80%, respectively. The very few case reports published referred mainly to unrecognized pHPT or diagnosed during pregnancy. We report the case of a woman with known asymptomatic pHPT who became pregnant.Case-report: A woman, 29 years, was diagnosed with pHPT a year before becoming pregnant; her bio...

Introduction: Thyroid tissue may be found anywhere along the course of thyroglossal duct. Sublingual thyroid is a rare type of ectopic thyroid tissue resulting from failure of the embryonic development and migration of the thyroid gland to its normal pre-laryngeal site, reaching between genio-hioid and mylohyiod muscles. In most cases, hypothyroidism develops due to inadequate hormon production. Hypothyroidism may produce pituitary enlargement secondary to thyrotroph hyperplas...

Introduction: Various non pancreatic tumors can cause hypoglycemia. Usually they are mesenchymal, retroperitoneal tumors or fibrosarcomas. Hemangiopericytoma is a rare type of mesenchymal tumor, which mostly develops in soft tissue and originates from the Zimmermann’s pericyte (modified smooth muscle cells).Case report: Fifty-nine-years old female patient with hypoglicemia was addmited to our department. Physical finding showed mild obesity and hype...

Ganglioneuromas are benign sympathetic tissue tumors originating from neural crest cells. A 40-year-old female patient, was admitted to our department for endocrinological evaluation of incidentally discovered tumor of right adrenal gland. For about a year before admission she had a pain under the right costal arch. An ultrasound and computed tomography (CT) showed 2 ovoid cystical tumors of right adrenal (34 and 32 mm, respectively). Three months prior admission she had sever...

Introduction: Adrenal incidentaloma are becoming very frequent. Bilateral adrenocortical adenomas are a rare cause of ACTH-independent Cushing syndrome.Clinical case: A 64-year-old hypertensive woman presented with bilateral adrenal incidentaloma detected on the evaluation as a living kidney donor candidate. She was normotensive (129/87 mmHg) on monotherapy, BMI – 24.8 kg/m2, with no recent weight gain, hirsutism, striae or mood disturban...

Methimazole-induced cholestatic jaundice is a rare adverse effect, dose-dependent, occurring within the first 3 months of use, usually reversible within 3 months after discontinuing drug therapy.Case report: Woman, 64 years, history of hyperthiroidism since August 2009, under therapy with methimazole 5 mg/day. The patient was referred to endocrinology department in March 2010, with history of heart failure, atrial fibrillation, type 2 diabetes mellitus, ...

Introduction: Familial hypocalciuric hypercalcemia (FHH) is a benign disorder, with inappropriately elevated parathyroid hormone, without the complications of hypercalcemia (1). It is important to discriminate FHH from primary hyperparathyroidism (PHPT), because of the consequences on symptomatic disease and therapeutic approach. Ca/Cr clearance ratio will be <0.01 in FHH and most often >0.02 in PHPT (2). In patients with PHPT and vitamin D deficiency, low urinary calc...

Introduction: Psoriasis is a chronic skin disease with a prevalence of 0.6 to 4.8%. Among the possible treatments, we highlight topic corticosteroids that can cause not only different local side effects (skin fragility and atrophy, striae, purpura, acne, telangiectasia, hypertrichosis) but also systemic side effects, including diabetes mellitus (DM), hypertension (HT), Cushing’s syndrome and hypothalamic–pituitary–adrenal (HHA) axis suppression.<p class="abs...

Introduction: Sarcoidosis is a systemic granulomatous disease of unknown etiology with a prevalence of 10–20/100 000 individuals and affects mainly young adults. Neurological involvement occurs in about 5% of the cases and it can affect the hypothalamic–pituitary axis. In this case, the most common endocrine manifestations are hyperprolactinemia and diabetes insipidus.Case report: A 44-year-old male patient complaining of not feeling well and d...

Small cell lung cancer (SCLC) is accepted as a neuroendocrine tumor and usually accompanied with paraneoplastic syndromes. Our case has been diagnosed as SCLC and the only finding of disease was hyponatremia.Case: Forty-four-year of female patient has admitted because of nausea, vomitting and fatigue. Serum Na level was 116 mEq/l. The patient hospitalized for further investigation. In physical examination BP was 140/80 mmHg, HR was 72 beats/min. Patient ...

Aim: Celiac disease is closely related with other autoimmune diseases. Our purpose is to examine the existence of endocrine diseases in Celiac patients.Materials and methods: Celiac patients admitted to gastroenterology clinic were referred to our endocrinology clinic between the dates of September of 2009 and June of 2010. This patient group was evaluated to see as if they had autoimmune thyroiditis, type 1 DM, primary hypoparathyroidism and primary adr...

Introduction: Polyglandular autoimmune syndrome (PAS) is a syndrome that is characterized by the association of two or more organ specific autoimmune disorders. Collagenous mucosal inflammatory diseases involve the columnar-lined gastric and intestinal mucosa. The coexistence of the two disease has not been reported. We have encountered a patient with a rare combination of autoimmune thyroiditis, hypoparathyroidism, primary ovarian failure and collagenous sprue. To our knowled...

A 61-year-old was diagnosed with CLL in 1986 but received no active treatment until 2006, when the WCC became elevated and bone marrow biopsy showed a dense B cell infiltrate. Despite initial treatment with chemotherapy there was disease progression, hence started on Alemtuzumab (Campath) on 24/5/2010. This was stopped on 18/6/2010 because of recurrent neutropenic sepsis. He was readmitted on 18/7/2010 because of left eye cellulitis and hyponatremic with serum sodium of 122 mm...

Nontraumatic rhabdomyolysis is mostly caused by drugs, alcohol consumption or compression of muscles. Severe hyperosmolarity rarely can cause rhabdomyolysis. Our case has santral diabetes insipidus that has admitted with the clinical picture of rhabdomyolysis.Case: Twenty-six-years old male has admitted to our clinic with the complaint of weakness, nausea, vomitting, polydipsia, polyuria, difficulty in walking and tendency to sleep. Neurologic examinatio...

Aim: Percutenous ethanol injection (PEI) is a minimally invasive method which can be preferred in treatment of cystic thyroid nodules. We have presented our cases of PEI below.Material and methods: We have performed PEI to 8 patients in our clinic. We have made ultrasound guided fluid aspiration from the cysts which were confirmed to be benign. We have injected ethanol (98%) into the pouche of the cyst in an amount that is 20–40% of the cystic fluid...

We have presented two cases of allergic reactions developed due to usage of insulin aspart.Case 1: Forty-years-old female patient has admitted to emergency with diabetic ketoacidosis. Parenteral hydration with saline solution and insulin infusion has been given to her in ER. After ketoacidosis picture has improved, mixture of insulin asparte and insulin asparte protamine was started as maintenance therapy. After the application of second insulin dosage, ...

Introduction: Sheehan’s syndrome is a rare cause of hypopituitarism secondary to an intra or postpartum severe bleeding. Manifestations are most often caused by deficiencies of hormones of anterior pituitary; involvement of posterior pituitary is rarely described.Case report: We report a case of a 45 years old hypertensive, multipara, premenopausal woman, who underwent fertilization by oocyte donation, that resulted in twin pregnancy. Preterm vagina...

Introduction: Parathyroid carcinoma is a rare cause of primary hyperparathyroidism. Initial complete surgical resection is crucial. Recurrence is common and primary cause of mortality is severe hypercalcemia.Clinical case: In 2006, a 51 years old male presented with multiple bone pain, anorexia and weight loss, calcium 11.7 mg/dl, PTH 189 pg/ml. Eight years before a diagnosis of atypical parathyroid adenoma was made after left inferior parathyroidectomy ...

Introduction: The IGF1 and 2 are polypeptides that share structural similarities to insulin and affect carbohydrate metabolism mainly by activating the IGF1 receptor. We report a patient presenting with prostate tumour and severe hypoglycaemia.Case presentation: An 82-year-old male presented with frequent seizures and severe hypoglycaemia. Four year prior to the current presentation the patient had been diagnosed with prostate carcinoma, however, he refu...

Deficiency of 17β-hydroxysteroid dehydrogenase type 3 (17βHSD3), an enzyme converting androstenedione (A) to testosterone (T) in the Leydig cells of the testis, is a rare cause of autosomal recessive 46,XY disorders of sexual development (DSD). A 18-year-old phenotypically female patient presented with primary amenorrhea. She had deep voice, macrocephaly, broad forehead, enlarged nasal tip, macrostomia, facial acne, gynecomastia, left-convex dorsal scoliosis, hypopla...

Introduction: Gynecomastia is a relatively common reason for consultation, with a high prevalence in the neonatal period, puberty and with aging. The diagnostic approach should be more thorough in normal-weight individuals with recent onset of gynecomastia, rapid growth of breast tissue, or in the setting of a large painful breast. Besides the evaluation of liver function, testosterone, estradiol, LH and β-hCG, testicular ultrasound evaluation is important to exclude test...

Introduction: Androgen-producing tumors are a rare cause of hyperandrogenism (±0.2%). Ovarian steroid cell tumors represent <0.1% of all ovarian tumors. They may present at any age and in 12–50% of cases are associated with virilization. The majority of these tumors are benign or low-grade malignanies.Clinical case: A 74-year-old female patient, with history of vaginal hysterectomy for genital prolapse at the age of 50, is referred to Endoc...

The XX male syndrome, also called ‘de la Chapelle syndrome’, has been renamed as ‘46, XX testicular disorder of sex development’ (DSD) in 2006. It occurs in about 1/20 000 male newborns. We describe a 57-years-old male who referred to our andrological outpatient clinic because of erectile dysfunction. He was a smoker and suffered from 15 years of type 2 diabetes mellitus; he was also carrying a euthyroid multinodular goiter. The physical examination include...

Introduction: Parathyroid carcinoma is a rare cause of pHPT – <1%.Case report: We report the case of a 25-year-old man who presented with acute severe hypercalcemia (19 mg/dl) and extremely high serum PTH (2737 pg/ml). He was initially treated with i.v. fluids, calcitonin and pamidronate and total calcium decreased to 12.7 mg/dl. A left lower parathyroidectomy (tumour with microvascular invasion and intact capsule) was performed with a prompt de...

Introduction: Turner syndrome is a common cause of dwarfism and hypogonadism as is pituitary failure. However the association of the two is rarely thought and reported in the literature. We present two cases of women with hypogonadism diagnosed with Turner syndrome with various degrees of pituitary insuficiency.Case report: The first case presented at 16 years with secondary amenorrhea and showed slightly disharmonic dwarfism. A hypogonadotropic hypogona...

Introduction: Wolfram syndrome, a very rare condition, is a neurodegenerative disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) which appear in childhood, hampering diagnosis and treatment. Others less frequent features as hypergonadotropic hypogonadism, microvascular disease and local fibromatosis are reported in a male patient diagnosed at the age of 18 years.Case report: An 18-year-old male patient d...

Background: Hyponatraemia is the commonest electrolyte abnormality in clinical practice, and may be a biochemical manifestation of different diseases including malignancy. About 14% of hyponatremia in medical inpatients is due to underlying tumour related conditions.We present a case of 68 years widow who was referred by her General Practioner with 3 weeks history of nausea, occasional vomiting, confusion, increased urinary frequency, and urinary inconti...

Introduction: McArdle disease is a rare recessive disorder of glycogen metabolism, related to muscle phosphorylase deficiency. It usually presents in adolescence or early adulthood with muscle cramps, exercise intolerance, easy fatigability, and progressive weakness as glycogen is the primary source of energy for intense muscle activity. Few reports described the association of McArdle disease and type 2 diabetes and some authors suggested that hyperglicemia and hyperinsulinem...

Introduction: Merkel cell carcinoma (MCC) is a rare, aggressive cutaneous malignancy, affecting predominantly caucasian and older individuals (slight male predominance). This neoplasm is associated with a high risk of local recurrence and regional lymph node involvement. Distant metastases are less frequent; they were described in liver, bone, CNS, skin, lung and spleen. The authors describe a clinical case of Merkel cell carcinoma with a single metastasis in a thyroid nodule....

Introduction: Tuberculosis is stil an important cause of adrenocortical insufficiency in the devoloping countries. Adrenal insufficiency is usually the result of hematogenous spread of the pulmonary tuberculosis. Adrenal tuberculosis, especially with enlargement of adrenal glands can cause diagnostic problems and requires differentiation from neoplastic disease and fungal infections. Tuberculosis osteomyelitis is a rare form and surgery may be needed. We report a patient with ...

Introduction: Celiac disease (CD) is gluten sensitive enteropathy with a wide spectrum of severity. Iron deficiency, growth retardation, shortness, delayed puberty can be seen. Osteomalacia and hypocalcemia are results of malabsorbtion of vitamin D and calcium which may cause secondary hyperparathyroidism. In untreated cases for a long period, tertiary hyperparathyroidism can also be seen due to autonomy of parathyroid glands with chronic stimulation. There are some cases of p...

Introduction: Steroid 11β-hydroxylase deficiency is a relatively rare form of congenital adrenal hyperplasia characterized by the overproduction of adrenal androgens and deoxycorticosterone. It usually presents with virilization of the female fetus, precocious puberty in male infants and hypertension with or without hypokalemia in both genders. Because of high levels of mineralocorticoids, patients rarely present with Addisonian crisis. We describe a male patient with 11&...

Introduction: Glycated hemoglobin A1c (A1C) is used for diagnosis and monitoring diabetic patients. The precision of A1C assay methods is affected by the presence of hemoglobin variants. About 7% of world population is asymptomatic carrier of these variants.Case report: PCIMR, woman, 42 years old, caucasian, followed in consultation for obesity, primary hypothyroidism and bipolar disorder. Had family history of obesity and sudden death of her father at 5...

Introduction: Isolated acquired ACTH deficiency is rare; it may be due to hypophysitis and association with other autoimmune diseases was reported.Case report: E.L, female, aged 34, was diagnosed with primary autoimmune hypothyroidism and premature ovarian failure; levothyroxine and estroprogestins were administered. Suddenly, the patient developed vomiting, shivers without fever and soon coma installed, with tonic-clonic seizures. There was no history o...

Introduction: Prader–Willi (PWS) is a complex genetic syndrome characterized by dysmorphic features, hypotonia, mental retardation, behavioral abnormalities, hyperphagia with progressive obesity, and endocrine dysfunctions as hypogonadism and GH deficiency. GH treatment is recommended, the major concern being aggravation of sleep apnea.Cases report: We present 2 cases with specific clinical features and genetically confirmed PWS (del 15 q11.2–q...

A 42-years woman presented with hypothyroidism, a large, firm, irregular goiter, severe cervical and preauricular pain, 2 weeks after an episode of respiratory infection. Laboratory findings certified subacute thyroiditis and autoimmune hypothyrodism: TSH>50 μUI/ml, FT4=6.5 pmol/l, ATPO>1000 U/ml, ATGL>1000 U/ml, ESR=115 mm/1 h. Thyroid ultrasound showed hypoechogenic pattern with a nodule on the right lobe and low Doppler signal. Fine needle aspira...

Introduction: Usually, the hormonal profile is normal in patients with empty sella. However, when present, hormonal deficiency most commonly consist in growth disturbance in children and mild hyperprolactinaemia in adults. Hypopititarism with signs of symptomatic dysfunction occurs in <10% of patient with primary empty sella.Case report: A 27-years-old man presented to our department in 2008 with impuberism, micropenis, hypoplasic scrotum, inguinal g...

Background: Apart from signs of hyperprolactinaemia, patients with macroadenomas with extrasellar extension generally seek medical attention due to mass effect. Macroprolactinomas, particularly in men, may occasionally exhibit a very aggressive clinical course.Case report: Male 37 years old that went to a Neurology consultation complaining of progressively more frequent self-limiting episodes of restraint, silence and time and space disorientation in the...

Background: Sézary syndrome (SS) is a more aggressive leukemic variant of cutaneous T-cell lymphoma (CTCL). Bexarotene (Targretin) is a synthetic rexinoid analogue designed for the treatment of advanced stages of cutaneous manifestations of CTLC. Bexarotene selectively suppresses thyrotropin secretion and up to 40% of patients develop reversible idiopatic central hypothyroidism. Severe mixed dyslipidemia may be present in up to 70%.Case report: Seve...

Nodular hyperplasia of the adrenal as a cause of Cushing’s syndrome is rare. Adrenal tumors, frequently causing syndromes such as hyperaldosteronism due to autonomous hormone secretion, have been described in patients with renal cysts. The aim was to describe the case of a female patient with diffuse adrenal hyperplasia, subclinical Cushing’s syndrome and renal cysts.A female patient aged 69 years presented with hyperplasia of the right adrenal...

Background: GnRH is the first key hormone of reproduction. GnRH analogs are extensively used in IVF, and treatment of sex hormone-dependent cancers due to ability to bring about ‘chemical castration’. Recent studies have demonstrated that GnRH and sex steroids exert not only hormonal effects but play an important role in the immune system modulation.Case report: We report a case of vasculitis and severe polymyositis developed 5 days after GnRH ...

Introduction: Central diabetes insipidus (CDI) is characterized by a deficient secretion of anti-diuretic hormone (ADH), in which a large volume of hypotonic urine is eliminated. Pituitary metastatic disease is rare, accounting for 1% of all excised pituitary tumors and generally involves the posterior pituitary. Neoplasms that more often originate pituitary metastases are breast and lung cancer. Breast cancer (BC) is associated with pituitary secondary involvement in 5.3 to 2...

Introduction: Ovarian hyperthecosis is a rare cause of severe hyperandrogenism. Unlike PCOS, it is also described in postmenopausal women.We report the case of a 67-year-old obese (BMI=37.5 kg/m2) and dyslipidemic woman, gravid 5 para 3, menopause at 49, with poor controlled type 2 diabetes mellitus (HbA1c=10%). She was in treatment with insulin for the last 12 years, currently on 168 U/24 h (1.71 U/kg)- indicating severe insulin resistance, c...

Introduction: Poorly differentiated thyroid cancers are usually aggressive tumors that lack many of the characteristics of differentiated thyroid tissue, including the ability to uptake and process iodine.Case report: A 75-year-old male presented with weight loss, tiredness, asthenia, tremor, increased perspiration, tachycardia and bone pain in several locations. A hard and fixed thyroid nodule was palpable in the left lobe (FNA-«follicular tumor&#1...

HDR syndrome (hypoparathyroidism, deafness, renal dysplasia syndrome) is a rare clinical entity, which includes the simultaneous presence of hypoparathyroidism, sensorineural deafness and renal dysplasia. It is due to mutations of GATA3 gene in XP.10p and is inherited with the autosomal dominant type.The aim was to describe the case of a patient with clinical symptoms and laboratory and imaging findings compatible with HDR or Barakat syndrome.<p clas...

Hirsutism, development of terminal body hair in women in unexpected areas, may result from different etiologies; 4.3% being nonclassical congenital adrenal hyperplasia (NCCAH) and acromegaly being one of the rarests. We here present a severe hirsutism case with acromegaly and NCCAH.Case: A 30-year-old woman with headache and visual field abnormalities was consultated by our clinic about her cranial imaging revealing a macroadenoma in pituitary localizati...

Adrenal rests, nodules of the adrenal, in patients with chronic elevation of ACTH levels have been previously described.The aim was to describe the case of a patient with an adrenal tumor and late onset 21-hydroxylase deficiency.A female patient, aged 76 years, presented with an incidentally discovered mass of the left adrenal measuring 1.2 cm. The patient was short with a height of 152 cm. Morning serum ACTH levels were 31 pg/ml, ...

Introduction: The coexistence of Cushing’s disease with an ACTH-secreting adrenal adenoma is not frequent.Case report: A 32-year-old woman was observed in our Department in 2000 for obesity. Hypercortisolism was documented and the basal hormonal study and functional testing oriented towards a pituitary origin (ACTH 24.8 pg/ml). Pituitary magnetic resonance imaging (MRI) showed an asymmetric pituitary gland and a pituitary stalk deviation to the left...

Background: The different systems for monitoring capillary blood glucose levels may suffer interference from various substances.Case report: Male patient, 48 years old, with history of hypertension, dyslipidemia and previous smoking. He presented also type 1 diabetes mellitus, with 37 years of progress, with diabetic retinopathy, kidney failure, in peritoneal dialysis since 2009, and ischemic heart disease (myocardial infarction in 2005). He was treated ...

Introduction: The combination of two or more, autoimmune, endocrine dysfunctions defines the presence of polyglandular syndromes.Case report: Female patient, 43 years old, history of type 1 diabetes for 23 years and autoimmune hypothyroidism for 7 years, with no other relevant clinical history and without family history of autoimmune endocrinopathies. She was under therapy with insulin and levothyroxine. She came into the Endocrinology Department in May ...

Disorders of calcium metabolism arise in a familial or sporadic setting. The resulting hypo- or hypercalcemia can induce serious clinical features. Calcium sensing receptor (CaSR) plays a key role in maintaining this balance and its molecular investigation is useful to determine the nature of a certain condition or to choose the appropriate therapeutic approach.In the present study we reported two clinical cases. A 16-year-old patient had a mild hypercal...