Endocrine Abstracts

We describe below a 72-year-old woman who presented clinically with short metacarpals and metatarsals and the following blood biochemistry: corrected calcium of 2.16 mmol/l (normal: 2.05–2.60), phosphate 0.61 mmol/l (normal: 0.8–1.45) and alkaline phosphatase of 108 U/l (normal: 35–104). She was 153 cm tall and weighed 109 kg with a round face. She had a history of Monoclonal Gammopathy of unknown significance, vitamin B12 deficiency and was admitted 10 years ag...

Background: Cases of combined primary aldosteronism and preclinical Cushing’s syndrome are reported extremely rare.Highlight of a report: An unusual case of hyperaldosteronism due to bilateral macronodular adenomas with a left renal mass in a 55-year-old male is presented. MRI scan of the abdomen revealed a 4.5 cm mass of the right adrenal and two nodules in the left adrenal sized 2 and 3 cm, respectively in diameter. Additionally, a large mass on t...

We report a rare case of a solitary metachronus metastasis of renal clear cell carcinoma (RCC) in the thyroid coexisting with parathyroid tumors. The patient had undergone 20 years ago radical left nephrectomy for RCC. Upon presentation, the initial diagnosis based on clinical and echo findings was multinodular goiter. Fine needle aspiration (FNA) cytology of a growing non-functioning nodule of the right thyroid lobe revealed clear cells with oxyphilic granules suggesting RCC....

Due to the increased availability and use of radiology, endocrinologists are referred patients with incidentally discovered, clinically silent adrenal masses with increased frequency. Controversies persist regarding their investigation and management. We present two cases focusing in particular on the role of radiology in the management algorithm.A 43-year-old male underwent a CT urogram, which revealed an incidental 3×3×2 cm right adrenal mass...

Background: QT interval reflects cardiac ventricular repolarization and, if prolonged, increases the risk of malignant arrhythmias such as torsade de pointes. QT interval duration is similar in boys and girls during childhood but shortens in males after puberty. In fact, reference limits for QTc in adults reflect this difference, i.e. lower than 460 ms in women and lower than 440 ms in men. Experimental studies suggest that testosterone is the major contributor to shortening o...

Silent and post-partum thyroiditis are autoimmune conditions, which result in a triphasic thyroid hormone disturbance. They are distinguished by the later condition’s relation to pregnancy. Their association in the same patient resulting in recurrent episodes of silent thyroiditis suggests a common aetiology.We report a 32-year-old female with post-partum and recurrent silent thyroiditis continuing over a decade. She presented post-partum with thyro...

A 39-year-old woman presented with a progressive enlargement of her feet, hands, tongue, nose and ears, headaches, excessive sweating, weakness and infertility. She was diagnosed with acromegaly at the age of 36, but had initially refused any kind of treatment. For a period of 3 years, the size of pituitary adenoma had enlarged from 10×12×20 to 13×19×22 mm, and the level of GH had increased from 62.4 to 104 mU/I. Preoperative administration of somatostatin ...

A 73-year-old woman developed androgenic alopecia and progressive hair growth on the chest, back and abdomen over the course of 3–4 years. Menarche was at age 16. She had irregular menstrual periods subsequently but gave birth to three children. She reached menopause at age 40. No history of weight loss or sweating was reported. At presentation, we saw a 73-year-old lady with pronounced hirsutism (Ferriman–Gallway-score 24/36). No virilizing signs of the external gen...

Rathke cleft cysts (RCCs) are non-neoplastic sellar lesions derived from remnants of Rathke’s pouch, and mostly asymptomatic. Symptomatic RCCs occur usually in middle-age, are >1 cm, and cause pituitary hypofunction, diabetes insipidus, hyperprolactinemia or visual impairment. In children, RCCs are rare and usually asymptomatic. However, symptomatic cases may present with growth retardation and diabetes insipidus. We report two children with symptomatic RCC manifestin...

Distant metastases as initial manifestation of follicular thyroid carcinoma is rare. We report a case of an unusual initial presentation of follicular thyroid carcinoma on follow-up. A 52-year-old woman presented with a 12-month history of progressively enlarging mass in the anterior chest wall. The mass was fixed to the chest wall, measuring 12×10 cm in diameter. Computed tomography demonstrated a lobulated soft-tissue mass (17×11×6 cm) destructing sternum and ...

Objectives: We report on a case of a 32-year-old patient with urticaria pigmentosa, the cutaneous form of mastocytosis, since the age of 13. A bone marrow biopsy revealed systemic mastocytosis disease. In 2005, after a minor trauma, the patient had an X-ray of the spine which showed a new fracture of the thoracic vertebrae 3–4. Further DXA examination of the bone mineral density showed osteoporosis (T-Score −2.8 lumbar vertebrae; right/left femur −1.0/&...

Background: Testosterone (T) in a hydroalcoholic gel is commonly prescribed as androgen replacement therapy and may not be accompanied by peaks and troughs of serum T levels as seen in T-injectables. We assessed in 17 subjects the differences in serum testosterone (sT) and free T (fT) levels during four different application periods.Methods: Patients where on daily 50 mg Androgel®, for 7 consecutive days in each cycle, on day 8 serum was ...

Background: Cushing’s disease is defined as ACTH dependent pituitary Cushing’s syndrome and is rare with an estimated incidence of 5–25 per million/year. Polycystic ovary syndrome (PCOS) is a heterogenous disorder affecting up to 10% of women in the reproductive age and shows clinical overlap with Cushing’s syndrome (obesity, hirsutism, cycle abnormalities, etc). An increased frequency of Cushing’s syndrome in selected patient groups has been postulate...

The GNAS locus (chromosome 20q13) yields multiple transcripts, including the stimulatory G protein subunit α (Gsα), NESP55, GsαXL and two noncoding RNAs, the GNAS1A-transcript (A/B) and the antisense transcript (AS). The corresponding promoters show a complex methylation pattern resulting in an allele-specific imprinting, with maternal expression of NESP55 and paternal expression of GNAS1A, GsαXL and AS. Gsα in most tissues is derived from both alleles...

Hyperthyroidism due to TSH-secreting pituitary adenoma is a rare disease and accounts for 0.4% of all pituitary tumors. About 15% of these tumors show co-secretion of prolactin or growth hormone.We report the case of a 44-year-old man, presenting with sudden onset of tremor and agitation and central thyrotoxicosis (TSH 1.01 μU/ml, fT3 8.44 pmol/l, fT4 30.2 pmol/l). Ultrasound of the thyroid gland and TSH-receptor antibodies were normal. Imaging of t...

LMNA mutations cause a wide range of diseases involving either specific tissues in isolated fashion (cardiac and skeletal muscles, nerve, adipose tissue) or several tissues in a generalized way (premature ageing syndromes…). The cardiac disease is defined by conduction and rhythm disturbances, followed by dilated cardiomyopathy, heart failure, and sudden cardiac death. We report an unusual case of laminopathy revealed by diabetes associated with conduction disturb...

Adult-onset type II citrul this rare metabolic disease for the adult patient who exhibits mental changes and hyperammonemia without liver or brain diseases. Recently, the SLC25A13 gene, which encodes the mitochondrial aspartate glutamate carrier protein named citrin, is demonstrated to be responsible for adult-onset type II citrullinemia. While there have been multiple cases reported in the Japanese population, there is no report of adult-onset type II citrullinemia wit...

Background: Primary squamous cell carcinomas of the thyroid are uncommon entities with less than 100 cases described in the literature.Case report: We report on the imaging findings in a rare case of primary squamous cell carcinoma of the thyroid that was found to be the primary tumour of humerus and cervical lymph node metastases. Other sources of squamous cell cancer were ruled out by a careful search, including whole body computed tomography (CT), pos...

Objective: The study was to characterize metabolic syndrome (MS) in type 2 diabetic patients (T2D pts) according to the definition of International Diabetes Federation (IDF) and to test the hypothesis that this definition identifies insulin resistant subjects.Materials and methods: Three hundred and eighty-three (194 females, 189 males) T2D pts of age 62.2±10.4 years, HbA1c 7.5±1.4%, BMI 30.8±4.8 kg/m2 (mean±S.D.</sm...

Case: A 38-year-old HIV positive lady presented with a neck swelling and neutropenic sepsis. Examination of the neck revealed a firm diffuse non-tender goitre with cervical lymphadenopathy. She also had generalised lymphadenopathy, splenomegaly and miliary opacities in the lungs on the chest radiograph. Disseminated cryptococcal infection was diagnosed following isolation of the organism in blood and bone marrow. A radioisotope scan of the thyroid showed no uptake in the right...

Introduction: Resistance to thyroid hormone (TH) can be caused by a failure of TH to enter the cell, or by a lack of action of intracellular TH.Cases: Patient A, a 60-year-old man, presented with an elevated TSH (15.8 mU/l (reference range: 0.4–4.3 mU/l)), an elevated FT4 (29.5 pmol/l (11–25 pmol/l)), and a normal T3. Reverse T3 (rT3), the inactive metabolite of T4, was clearly elevated (0.82 nmol/l (0.14–0.34 nmol/l)). His medical history...

Cushing’s disease (CD) occur more frequently in females than in males, but in men this disease seems appear at a younger age and with more severe symptoms and clinical course. Aim of this study was to compare clinical features and biochemical indices of hypercortisolism in male and female patients with CD.Methods: Forty-five patients (35 females and 10 males) with confirmed CD were analyzed. All patients underwent a complete biochemical and endocrin...

Langerhans cell histiocytosis (LCH) is a rare disease often involving the hypothalamo-pituitary axis. Extreme obesity is frequent, but effective treatment is not. Malabsorptive bariatric surgery techniques are effective for weight loss in hypothalamic dysfunction. Laparoscopic sleeve gastrectomy (LSG) has recently emerged as a restrictive bariatric procedure to be used before biliopancreatic diversion or gastric bypass, thus reducing surgery-associated morbidity in particularl...

Metoclopramide (MCP) is a selective blocker of dopamine D2 receptor, responsible for the dopamine inhibition of prolactin (PRL) secretion from the pituitary. In normal conditions, administration of the proper dose of MCP leads to increase of PRL concentration in the blood serum. This response was applied in the diagnostic test (MCP test), useful to differentiate between hyperprolactinaemia linked with organic causes (prolactinoma and other lesions of hypothalamo-pituitary regi...

Background: Thyroid hemiagenesis (TH) is a rare inborn anomaly, occurring if one of the thyroid lobes fails to develop. Due to mostly asymptomatic course, it is usually detected incidentally, during investigation of concomitant abnormalities of the thyroid function or structure.Case report: A case of Graves’ hyperthyroidism following primary hypothyroidism due to Hashimoto’s thyroiditis (HT), accompanying a TH, is reported. The patient first pr...

Ovarian hyperthecosis is a rare cause of androgenic alopecia in postmenopausal women. The physiological levels of androgens, secreted by ovarian stromal cells, are greatly increased with hyperplastic or neoplastic transformation leading to possible clinical consequences.We report a case of 56-year-old woman with type 2 diabetes presenting with hirsuitism and a history of male pattern hair loss over a two-year period. Biochemistry showed elevated levels o...

Complete androgen insensitivity syndrome (CAIS) is a rare X-linked disorder caused by androgen receptor gene (AR) mutations that result in complete impairment of genital virilisation. Usually CAIS patients, who have normal production of AMH by Sertoli Cells, do not show Mullerian derivatives, although the persistence of Mullerian duct derivatives up to now have been described in nine cases.Here, we report the case of a fetus aborted at 20 weeks for genit...

Papillary thyroid carcinoma is a slow growing tumor and is reputed to have an excellent prognosis. In 10–20% of cases, the presence of lymph node metastases led to diagnosis.Objective: To present a patient with enlarged lateral cervical masses, present for 10 years, that proved to be lymph nodes with metastatic thyroid papillary carcinoma.Case report: We report a case of an 26-year-old female patient with 10 years evolution of...

Gonadotroph adenomas represent 40–50% of pituitary macroadenomas. Only a small subset of these tumors secrete sufficient hormone to elevate serum gonadotropin levels (functioning gonadotroph tumors).We are presenting the case of a 30-year-old male patient (E.R) having a characteristic symptomatology for the pituitary macroadenoma: headaches, impaired visual acuity and reduced visual field (based on ophthalmological examination). MRI (with gadolinium...

Introduction: Transsexualism associates biological normality with the conviction of belonging to the opposite sex and the gender reassignment request. The therapy includes psychological, hormonal and surgical treatment. Only limited clinical studies addressing cross-sex hormonal therapy and side effects exist.Methods: Here, we report the results of a drafted questionnaire evaluating etiological aspects and treatment outcome. The questionnaire was distrib...

In chronic diseases patient (pat) often need continuous med treatment. In acromegaly and neuroendocrine tumors (GEP-NET), long term monthly injections of somatostatin analogues as Sandostatin® LAR® (SA®) are the treatment of choice. Problems regarding pat management and drug application might arise in not-specialized centers such as general practicioners (GP). To optimize pat’ management and compliance a homecare project* wa...

Among hypertensive population, almost 10% have primary hyperaldosteronism. In these cases, most abnormalities are related to hypokaliemia with progressive or acute onset of the symptoms.We present the case of 34-year-old male patient, without significant pathological history, with a sudden neurological episode, dominated by tetraplegia and mild elevated blood pressure. Extremely low values of serum potassium are found. Diabetes mellitus is also discovere...

Introduction: Besides an incidental finding on MRI, headache, cranial nerve palsy, or pituitary insufficiency may lead to the diagnosis of a clivus tumor. Hormone secreting pituitary adenomas mimicking a clivus tumor can be easily identified by hormone testing, however, have to be considered prior to surgical procedures.Methods: Within the last 3 years, 9 patients were transferred to us with the diagnosis of a clivus tumor for surgical therapy.<p cla...

We present a novel heterozygous compound inactivating mutation of the CYP19A1 (P450arom) gene in a 26-year-old 46-XY Caucasian Italian male leading to aromatase deficiency. The patient phenotype resembled those observed in the other estrogen-deficient patients: tall stature with continuing linear growth, bilateral genu valgum, unfused epiphyses and delayed bone age, osteopenia. A dysmetabolic syndrome characterized by overweight (BMI 29), hyperinsulinaemia, low serum HDL and i...

Introduction: Galactocele is a rare form of cystic, benign lesion of the breast, occurring when a mammary duct becomes obstructed and over filled with milk. It usually appears in postpartum women, either lactating or not, but it is extremely rarely seen in postmenopausal women or in men.Subject: We present the case of a 37-year-old female patient, nullipara, diagnosed with a microprolactinoma 18 months ago, and treated with bromocriptine since then (7.5 ...

Introduction: Prevalence of celiac disease (gluten enteropathy) in general population is around 1:100–300. Half of these patients are women. Most common age for diagnose is third year or third to fourth decade of life, due to mild clinical signs. In the moment of diagnosis, 30% of patients already have lowered bone mineral density (BMD). Pathophysiologic mechanism for lowering BMD is secondary, regulative, intestinal hyperparathyroidism.Aim: To trac...

Introduction: Patients with type 1 diabetes mellitus (DM1) present a high prevalence of autoimmune associated diseases. Recently, we described a prevalence of latent pernicious anemia (LPA) of 12.4% in DM1.Objectives: A 5-year follow-up study of a cohort of DM1 patients in order to evaluate the evolution of biochemical markers of LPA, defined as a serum pepsinogen I (PI) concentration below normal limits.Material and methods: One h...

We report of two sisters with hyperandrogenism, menstrual abnormalities, and severe insulin resistance. The elder sister was seen after puberty at age 21 and she was referred for the evaluation of hirsutism and polymenorrhoea; the younger was seen earlier in life, at age 15, for the evaluation of secondary amenorrhoea. In both of them, we performed the diagnosis of polycystic ovary syndrome (PCOS) in accordance to the Rotterdam criteria. They also presented a lipodystrophic ph...

The simultaneous occurrence of primary hyperparathyroidism and hyperthyroidism due to Graves’ disease in the same patient is quite rare. Primary hyperpara-thyroidism accounts for hypercalcemia in only 1% of the thyrotoxic patients. The occurrence of hypercalcemia in thyrotoxic patients may represent a challenging diagnostic approach.In this report, we describe the first case diagnosed in the Clinic of Endocrinology Timisoara with hyperthyroidism due...

A 39-year-old lady presented with chest infection and was found to be hyponatraemic (114 mmol/l) during her third pregnancy. Short synacthen test (SST) revealed inappropriately low ACTH (39 ng/l) with adrenocortical failure (cortical 163, 355, 503 at 0, 30 and 60 min respectively). She was started on replacement hydrocortisone. Adrenal autoantibodies were negative. Other tests showed IGF-1 14.8 (13–50 ηmol/l), growth hormone <0.1 (<10 mU/l), prolactin 677 (&#...

Objective: This open-label, single-arm study assessed the long-term safety and efficacy of injectable testosterone undecanoate (TU; Nebido) in men with hypogonadism.Methods: Men aged 18–75 years with hypogonadism (baseline serum total testosterone <10 nmol/l) were recruited. The study was performed under conditions designed to resemble routine clinical management: patients with underlying conditions such as diabetes mellitus and hypertension wer...

A 46-year-woman was admitted with decreased appetite, weight loss, nausea, constipation, poor concentration, cough and shortness of breath on exertion. She had long standing history of low backache and had been taking paracetamol and codeine in combination, amitriptyline, tramadol, stemetil, diclofenac, and calcichew D3 one tablet/day On examination, blood pressure was elevated, erythematous nodules seen over right shin. Initial investigations showed normocytic anemia, elevate...

Introduction: Testosterone (T) improves muscle strength in hypogondal patients. It is unclear if testosterone has similar effects in frail elderly men with low T. We conducted a randomised double-blind placebo-controlled parallel group study to determine the effects of T on muscle mass and strength, physical function and quality of life in frail elderly men from the general population.Methods: Two hundred and sixty-two prefrail and frail elderly men (cri...

Women with polycystic ovary syndrome (PCOS) and insulin resistance have an increased risk of developing many of the consequences of the metabolic syndrome. Obesity, but in particular metabolic syndrome seems to be the main cause of nonalcoholic fatty liver disease (NAFLD) so, it is not surprising that NAFLD is very common in patients with PCOS. We present the case of a 23-year-old woman diagnosed with PCOS and insulin resistance in our Endocrinology Clinic (irregular menses, h...

We describe a case of severe hypocalcemia after methimazole treatment for Graves disease, which closely resembles classic hungry bone syndrome.A 41-year-old woman with a history of Graves disease presented to our Internal Medicine ward with tachyarrythmia. Laboratory data showed a severe hyperthyroidism, an ecocardigraphy demonstrated a dilated cardiomyopathy. The patient was given beta-blockers, low molecular weight heparin, and methimazole (30 mg/day)....

Myelolipomas are rare benign tumours resulting from myeloid and adipose mature cells proliferation, both elements have a clonal origin from a common precursor. Myelolipomas predominantly involve the adrenal gland but may develop in extra-adrenal sites. They are hormonally inactive but may coexist with active diseases such as adrenogenital syndrome. They are often asymptomatic but rarely they cause symptoms due to their size or spontaneous retroperitoneal haemorrhage. The myelo...

Subclinical CS, mild hypercortisolism without overt clinical manifestations, is the most frequent (5–8%) hormonal abnormality detected in patients with secreting adrenal incidentalomas.Unclear clinical features and mild hypercortisolism make the diagnosis problematic, although laboratory criteria have recently been reviewed. In these cases, scintiscan is a central tool to define the adrenal functional activity.A 60-year-old ma...

Introduction: Sheehan’s sydrome was known varying degrees of hypopituitarism due to postpartum ischemic necrosis by different etiologies. We report two case who are presented with pancytopenia which is unusual and rarely observed an important clinical finding associated with Sheehan’s syndrome.Case 1: A 57-year-old woman has complaints of malaise, fatigue, and dyspnea without lymphadenopatia and hepatosplenomagaly. She had excessive bleeding af...

At our department of Endocrinology a 44-year-old patient with typical clinical signs of Cushing’s disease presented. Diagnostic procedure showed an ACTH-producing adenoma of the pituitary gland, so the patient underwent transsphenoidal surgery. Afterwards, hypercortisolism persisted and was treated with Ketoconazole. After a short period of time a pituitary hemorrhage occurred and resulted not only in a complete remission of Cushing’s symptoms, but also in hypopituit...

Introduction: Recently, noninsulinoma pancreatogenous hypoglycaemia syndrome (NIPHS) has been described following Roux-en-Y Gastric Bypass Surgery in morbidly obese patients. It has been proposed that hypoglycaemia might be a consequence of a failure to adaptively decrease insulin secretion after surgery. The authors present a case of a morbidly obese patient with severe hypoglycaemias beginning 3 months after gastric banding surgery.Case report: A 60-ye...

The coeliac disease is the autoimmunity disease of small intestine, which is the immune response result to various proteins of cereals, especially wheat gliadin. in adulthood it often manifests with various symptomatology, which includes metabolic osteopathy arising on secondary hyperparathyreosis.There is casuistic model of 24-year-old patient with Down syndrome and documented autoimmunity thyroiditis, where the coeliac disease manifested by serious hyp...

Background: Osteolytic metastases of the bone occur in several malignant tumors. Beside osseous metastases, endocrine diseases like primary hyperparathyroidism can mimic osteolytic metastases.Case report: A 53-year-old woman was sent to the hospital by an oral surgeon with a worsening of her general condition, fatigue, a painful tumor of the mandible, diffuse bone pain and the diagnosis of a suspected metastasized malignancy. Laboratory testing showed a ...

COGHD may be of genetic origin associated with deficiency of other pituitary hormones. Non treatment with GH in these cases can cause metabolic and other disturbances. The aim of this research was examining consequences of non treated COGDH in three sisters with familial hypopituitarism. Three sisters 60-, 59- and 54-year-old with familial hypopituitarism (GH,TSH, gonadotropin and prolactin deficiency) which was diagnosed 46 years before were examined. Substitution therapy per...

Giant prolactinomas are uncommon, with some individual case reports described in the literature, but with few series documenting treatment outcomes. They represent a therapeutic challenge, since restoring normoprolactinemia, eugonadism and reducing tumour size may not be realistic goals. Specific complications may also arise during treatment that change the initial management plans. The authors describe a case of a 28-year-old male with visual impairment and behavioural change...

Multiple meningiomas are rare benign tumors (1.5% of all meningiomas). They are either sporadic or associated with neurofibromatosis. Their long term morbidity is high due to the frequency of surgical procedures needed to overcome the absence of efficient adjuvant therapy. We present a cohort of patients in whom we strongly suspect cyproterone acetate to be responsible for the development and progression of multiple meningiomas.Patients and methods: We r...

A patient was referred to us because he had hypokalemic hypertension and no detectable blood concentrations of renin and aldosterone. In addition, this patient had an adrenal mass. Since he was hyponatremic, he was put on fludrocortisone.At presentation, we found that the patient was normonatremic and hypokalemic and had a high sodium to urinary sodium to potassium to urinary potassium (SUSPUP) ratio. But review of older laboratory results showed an inad...

Aim: To evaluate the clinical efficacy of androgen replacement therapy with oral or intramuscular (i.m.) testosterone undecanoate (T.U.) in male patients with central hypogonadism.Patients and methods: We retrospectively evaluated 40 patients with hypogonadotropic hypogonadism: 29 with pituitary tumors or craniopharyn-giomas, 11 with non-tumoral hypogonadism (median age 47 years, range 20–62), before and after androgen replacement therapy, with the ...

Objective: Despite a wide variety of differential diagnosis, modern MRI imaging usually enables a good preoperative evaluation of the aetiology in most cases with scull base and sellar lesions. However, in some cases MRI visualization alone may also be misleading with a consecutive need to adapt intraoperative strategies.Clinical presentation: The case of a 67-year-old male patient with the history of a bacterial meningitis, visual deterioration and the ...

Introduction: Primary amenorrhoea is defined as the absence of spontaneous menses by 16 years of age.There have been few, if any detailed reports of primary amenorrhoea from India.Aim: To assess the clinical profile and aetiology in patients presenting with primary amenorrhoea attending a tertiary care hospital in India.Materials and methods: A retrospective study was undertaken of patients presenting to a tertiary care institution...

Background: Pseudohypoparathyroidism (PHP) is a heterogeneous group of disorders characterized by hypocalcemia, hyperphosphatemia, increased serum concentration of parathyroid hormone (PTH) and insensitivity to the biological activity of PTH.Case report: We present the case of a 38-year-old man admitted to the Neurology Clinic in November 2007 for a witnessed grand mal seizure that resolved without intervention. Patient had a history of mental retardatio...