Endocrine Abstracts

Introduction: Adrenocortical carcinoma (ACC) is a rare and potentially fatal disease in childhood. Complete resection of the tumor and metastasis can improve survival. Case: A 2.6 year-old boy presented isosexual pseudo-precocious puberty at 2.1 years. CT revealed a single nodule in the left adrenal (2 cm) which was resected by adrenalectomy. Histology revealed an adrenocortical tumor (2 cm, 3.0 g, Weiss score 4), ENSAT stage I. Partial regression of the puberty features and n...

A 48-year-old female was admitted to our hospital because of prolonged fever of unknown origin for three months, anemia, renal dysfunction, and hypercalcemia. There were no abnormal parameters of physical examination except fever of 37.6 °C, BMI of 26 5 kg/m2 after 11 kg of body weight loss in 2 months, and her blood pressure was 138/87 mmHg. C-reactive protein and WBC were 24.6 mg/dl and 10 900/μl, respectively. A/G ratio was elevated with total protein ...

Introduction: The reactivation of autoimmune disorders has been described in patients with hypercortisolism after normalization of cortisol secretion. This phenomenon is probably related to the loss of immunosuppressive effect of endogenous glucocorticoids. This is a report of two patients with Takayasu arteritis (TA) and Cushing’s disease (CD), a novel association never described in literature, in whom TA was exacerbated after normalization of cortisol secretion.<p c...

Background: CSF rhinorrhoea is a rare but recognised complication of dopamine agonist therapy for macroprolactinoma. In the majority of cases, onset of CSF rhinorrhoea is within 4 months of commencing therapy.Case report: A 23-year-old man presented to the Emergency Department in April 2010 with acute weakness in his left arm and leg associated with intermittent headaches. Examination revealed mild right-sided ptosis and inadequate androgenisation. Visua...

Introduction: Ectopic ACTH-dependent Cushing’s syndrome (ACS) may present with different clinical pictures and it may represent a diagnostic challenge.Methods: We describe the clinical presentation and the laboratory, imaging and pathologic findings of three patients with ectopic ACS.Results: Case 1. A 31-year-old man with a 1-year history of spontaneous rib and vertebral fractures was admitted to our hospital for ACS evaluati...

Hyponatraemia is the most common electrolyte abnormality, encountered in up to 30% of inpatients. Inappropriate management can have serious implications for patients; including demyelinating disease, coma, and death.Methods: Patients (n=100) admitted to the medical admission unit of a district general hospital with a serum sodium (Na) <130 were selected for the study. All details including patient demographics, blood biochemistry, date of admi...

A 21 years old man had growth failure since 11 y.o., micropenis, high-pitched voice, the absence of secondary sex characteristics and male sexual behavior, constant fatigue and weakness. The boy was born in time after 1st normal pregnancy, birth weight 3000 g, length 57 cm, had unilateral cryptorchidism (surgical treatment in 2002). At the age of 21 the height of the patient was 144 cm (SDS - 4.62), BMI 15 kg/m2 (BMI SDS −3.89), Tanner G1P1, bone age 13 y.o. I...

Introduction: Acromegaly secondary to an extrapituitary source of GH or GHRH is rare, usually associated with bronchial/thymic carcinoids, neuroendocrine enteropancreatic tumors or extrasellar somatotropinomas. Few series of acromegalic patients with negative pituitary imaging and lack of an ectopic source are reported in the literature.Methods: We report the clinical history and the laboratory and imaging results of an acromegalic woman with no clear ev...

Study objective: To evaluate the long term outcomes of menorrhagia treated by microwave endometrial ablation(MEA) as well as the factors which influence the outcomes.Design: Prospective, single-arm study.Setting: GuangDong Women’s and Children’s Hospital, GuangDong, China.Patients: Three thirty four women with menorrhagia were selected for MEA, the age of these patients ranged from 29 to 59 years.</...

Neurohypophyseal diabetes insipidus (DI) is said to be caused by familial forms in about 5% of cases1. Hereditary transmission is autosomal dominant in most families and is caused by a mutation in the arginine vasopressin (AVP) gene on chromosome 20p13, which encodes for a large precursor hormone.A 19-years old otherwise healthy patient seeked endocrine care for an inadequately treated DI. He reported about an undoubtful disease history with a...

Introduction: Acromegaly is preferentially treated by surgery and/or radiotherapy before pregnancy, in order to avoid use of medication during pregnancy, and prevent GH excess related complications for mother and child. Only two cases of use of pegvisomant during pregnancy have been described; in one patient medication was discontinued after the first trimester, and in the other pegvisomant was used as monotherapy.Case report: A 29-years old female had b...

Background: A recent, large phase III study (n=162) showed that treatment with pasireotide rapidly decreased urinary free cortisol (UFC) levels and improved signs and symptoms in patients with Cushing’s disease. Here, we report the experience of a patient enrolled in this trial who received pasireotide for 36 months.Results: A 31-year-old male presented in June 2008 with persistent Cushing’s disease despite two previous pituitary surgica...

We have audited control of acromegaly in a specialist endocrine unit in Oxford now that this should usually obtainable. We have 240 patients under active surveillance, seen annually since diagnosis. Data from 115 of these seen in the last year have been used for this analysis.Methods: We grouped patients according to whether they were controlled in either or both IGF1 and GH or uncontrolled. Controlled IGF1 was defined according to age and sex and GH was...

A 31-years-old female was admitted to our hospital because of prolonged fever of unknown origin for 2 months. As she was originally diagnosed to have upper respiratory infection, antibiotics and antipyretic analgesics were prescribed. However, there is a recurrence of fever up to 39 °C without antipyretic analgesics. There were no changes in body weight or the size of clothes, and she did not notice any clinical features of Cushing’s syndrome. Her height and weight w...

Context: Most of the clinical data on safety profile of desmopressin (DDAVP), i.e. an effective treatment of both polyuric conditions and bleeding disorders, originates from studies on tailoring of drug treatment, whereas few reports describe severe side effects secondary to drug–drug interaction.Objective: To describe a case of severe hyponatremia complicated with seizure and coma due to the intake of non steroidal anti-inflammatory drugs (NSAIDs) ...

Background: Germ cell tumors (germinoma, teratoma, embryonal carcinoma, yolk sac tumor and choriocarcinoma) constitute 0.3–3.4% of all primary intracraneal tumors. Germinoma is the most common and of better prognosis.Aim: Describing the behaviour of germ cell tumors of the pituitary–hypothalamic region: location, clinical characteristics, diagnosis and follow-up.Material and methods: Review of medical records of patients ...

Introduction: Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of Cushing’s syndrome. Total bilateral adrenalectomy is mostly chosen for treatment because pathological changes usually grow out in both adrenal glands among PPNAD cases. Meanwhile total adrenalectomy may result in life-threatening acute adrenal insufficiency. In this report, two PPNAD patients were examined to check the laterality of hormone secretion from both glands by adrenal venou...

Introduction: Cyclic Cushing’s syndrome (CCS) is extremely rare. It’s defined by periodic hypercortisolism with at least three proven peaks and two drops in cortisol secretion.Case report: A 35-year-old woman was reffered for evaluation of endogenous hypercortisolism after a diagnosis of central serous coriorethinopathy. Initially she had mild symptoms. Urinary free cortisol (UFC) was 2.881 μg/24 h; ACTH 17.45 pg/ml and night salivary cort...

Introduction: Disorder of water and electrolyte balance may develop after transsphenoidal (TNS) surgery for pituitary adenomas. In particular, delayed hyponatremia (Na<135 mEq/l) due to SIADH is reported in 8–35% of patients and usually resolves with fluid-intake restriction within 6 days. The possible role of vasopressin-2 receptor antagonists in this clinical setting has not been elucidated.Case report: We report a case of a 57-years-old Cauca...

Familial isolated pituitary adenoma (FIPA) occurs if two or more members of a family develop pituitary adenoma with no features of multiple endocrine neoplasia type 1 or Carney complex. FIPA is an autosomal dominant disease with incomplete penetrance. FIPA families can be divided into two distinct groups based on genetic and phenotypic features. In 20% of FIPA families mutations have been identified in the aryl hydrocarbon receptor interacting protein (AIP) gene. The AIP-posit...

Langerhans cell histiocytosis (LCH) is a rare entity characterized by clonal proliferation and accumulation of cells resembling the epidermal dendritic cells called Langerhans cells (distinct margins, pink granular cytoplasm, Birbeck granules at electron microscopy and CD1 positivity by immunocytochemistry). These cells in combination with lymphocytes, eosinophils ad normal hystiocytes form the typical LCH lesions. About half of affected patients have extraskeletal manifestati...

Cyclic Cushing’s syndrome (CysCS) is one of the peculiar types of Cushing’s syndrome, characterized by the iteration between remission and recurrence. The precise mechanism in which the hormonal activity is changed suddenly has not been determined, while several hypotheses have been presented. Here, we report a case of CysCS which was induced remission dramatically by dopamine agonist.A 67-years-old woman was pointed out increasing ACTH and cor...

Background: Headache often occurs as incapacitating symptom among the patients with acromegaly. GH involvement in the pathophysiologic mechanism and an analgesic effect of somatostatin analogues has been described, but the exact mechanism is not clear. Whether the pan somatostatine (sst)-receptor agonists are superior as concern the antinociceptive effect than the more selective ones is not evidenced.Case report: A 21-year old woman, diagnosed with acrom...

Introduction: Cystic adrenal incidentalomas are relatively rare. Large cystic pheochromocytomas are extremely rare and there are few reports of them being clinically silent.Case presentation: We report the case of a 57-years-old man, who was admitted to our clinic for evaluation of a large cystic lesion that was found ultrasonographicaly in a typical check-up. We ordered a CT that revealed a giant right adrenal cyst (91.3×96.8×92.1 mm) with thi...

A 37-years-old man was referred to rheumatology with a 3 month history of widespread joint pains, worse on rising in the mornings with early morning stiffness lasting about 15 min. Hands were affected first followed by knees and hips. On further questioning, he also complained of generalised fatigue, loss of libido and thinning of the hair on his chest, as well as 15 kg weight loss over 6 months. He recalled a febrile illness with headache prior to the onset of his symptoms, b...

Introduction: Rhabdomyolysis coexisting with Addison’s disease is a rare condition and the mechanism is not clearly defined. We report a patient presenting with sever rhabdomyolysis which resolved after steroid replacement therapy.Case report: A 33-year-old man without accompanying comorbidity, presented with progressive myopathy and fatigue. He was hypotensive (RR 90/70), hypovolemic with hyponatremia (125 mmol/l, range 137–146), elevated seru...

Tolvaptan, an oral antagonist of the vasopressin V2 receptor, has been found to improve hyponatremia in patients with SIAD. We report the case of a 65-years-old male, who developed recurrent episodes of hyponatremia after severe traumatic brain injury, TBI, with polytrauma (CGS=8, decompressive craniectomy, spontaneous breathing by percutaneous tracheotomy). During hospitalization in intensive care unit he resumed alertness and received i.v. hypertonic saline infusion and oral...

Introduction: Primary tubercular pituitary abscess is an extremely rare disease. Only few cases had been reported and the diagnosis was reached only after surgery. There is a need to distinguish between a tuberculoma, pituitary abscess and other functioning and nonfunctioning pituitary adenoma to direct our management into either medical or surgical management, especially here in the Philippines where tuberculosis is an endemic disease.Case: We present a...

Introduction: Pituitary involvement has been rarely reported during the course of hematological diseases like thalessemia, Langerhans-cell histiocytosis and lymphoma. We here present a case of chronic myeloid leukemia (CML) with pituitary involvement, in which central diabetes insipidus (DI) was the first sign of progression to accelerated phase.Case report: A 61-year-old man was consultated by our clinic due to polyuria with 6000 ml daily urine output. ...

Introduction: We report the unusual case of a young patient with micturition induced headache, in which contrast-enhanced ultrasound helped to assure diagnosis of paravesical paraganglioma.Case: An 18-year-old male presented with attacks of severe headache lasting several minutes and occurring strictly after micturition. Hypertensive values up to 200/105 mmHg were detected subsequent to nearly every micturition while values before and some minutes after ...

Pituicytoms is a very rare low-grade glioma of the neurohypophysis and can affect both the sellar and suprasellar regions. We describe a case of a suprasellar pituicytoma and mengioma of a patient admitted to our Clinic as a suprasellar tumor patient.Clinical presentation: A 55-years-old man with a history of persistent headache in the right frontal area for a period of 10 years prior to the admission as well as visual disturbances and decreased libido f...

Introduction: Acromegaly is a clinical condition results from GH hypersecretion which is usually elaborated by a somatotroph adenoma. Mass effect of adenoma and resulting hormonal changes impair fertility during pregnancy, estrogen-mediated pituitary enlargement along with enhanced pituitary vascularity is a true risk for tumor hemorrhage.Case presentation: The 28-years-old patient first visited by the endocrinologist in 2004 for secondary amenorrhea and...

Introduction: Childhood-onset hypopituitarism is an uncommon yet increasingly diagnosed disorder. As endocrinologists, we generally deal with the complexities of hormonal replacement and, when required, follow these patients to detect tumor recurrences. However, some causes of childhood- onset-hypopituitarism have comorbidities which can significantly increase morbi-mortality. We present the case of a 21-year-old girl who was diagnosed with ROHHAD syndrome.<p class="abstex...

Introduction: Non-functioning pituitary adenomas, usually macroadenomas, represent around 30% of pituitary tumors. Patients often present with signs of mass effect and symptoms of pituitary insufficiency. We report a complicated case of a cystic pituitary ‘macroadenoma’ presenting with recurrent mucocoeles likely due to underlying sinusitis.Case report: A 42-year-old Caucasian female presented with chronic headaches and unilateral temporal visu...

Introduction: Thyrotropin (TSH)-secreting pituitary adenomas are rare (<1% of all pituitary tumors) and cause secondary hyperthyroidism.Case report: A 33-year old woman with type 1 diabetes mellitus presented in 2009 with palpitations. She had a past medical history of radioiodine therapy for thyrotoxicosis in 1998. After radioiodine treatment, she received an increasing daily dose of thyroxine (from 50 to 175 μg) because of her gradually rising...

Introduction: The increased mortality in acromegaly is mainly related to cardiovascular, respiratory and neoplastic complications; neoplasms being responsible in 15%. Although most of the thyroid nodules in acromegaly are benign, there are studies revealing an increased ratio of differentiated thyroid cancer in this disease. Medullary thyroid carcinoma (MTC) has not been related with acromegaly so far. In this report, we aimed to present a patient with acromegaly whose thyroid...

Introduction: Acromegaly is a rare disease caused by an increased secretion of GH, usually derived from a benign pituitary tumor. Women with acromegaly are usually infertile, because of tumoral hypersecretion, compression or surgical sequelae. We can prevent infertility with an adequate treatment. There are some reports describing pregnacies among acromegalic women. It is believed that there is an increased risk of develloping diabetes mellitus and hypertension, especially whe...

Introduction: Acromegaly is a rare disorder and sporadic cases are the most frequent. It can also occur in association with genetic syndromes, such as Carney complex, multiple endocrine neoplasia type 1 (MEN-1), MEN-1 like syndrome, isolated familial acromegaly and familial isolated pituitary adenomas.Case report: Thirty five -year-old man was observed in 1994 for gynecomastia. Acromegaly was diagnosed based on clinical, biochemical (IGF1 1094.7 ng/ml, b...

Introduction: Tuberculosis is an insidious disease and may be diagnosed after it afected many organs.Case presentation: We present the case of a 56 years old female, who followed antituberculosis treatment in 2003 for pulmonary tuberculosis and during the treatment developed acute renal failure and for this reason the treatment was stopped. During the evaluations a left kidney tumor was detected. Left nephrectomy was performed in 2003 (HP examination &#1...

Introduction: Pituitary apoplexy is a rare acute complication in patients with functioning pituitary adenomas (including acromegaly) often followed by hypopituitarism and occasionally may show remission of symptoms after an apoplectic episode. We report this in an acromegalic patient who developed remission following pituitary apoplexy.Case report: A 24 years old woman is diagnosed with acromegaly after presenting for a period of 6 months moderate headac...

Neurofibromatosis type 1 is an autosomal dominant genetic disorder that results from loss of function of the neurofibromin gene, leading to failure of a tumor suppressor mechanism. Usually characterized by ‘café-au-lait’ spots, cutaneous neurofibromas, and a predisposition for tumorigenesis occurring in childhood, NF1 can have variable clinical expression, with ‘mildly symptomatic’ cases eluding diagnosis until adulthood.A 53-yea...

Histiocytosis is a group of syndromes /synonyms: eosinophilicgranulomatosis, pulmonary Langerhans cell histiocytosis, fibrous lung disease, disease of smokers, non-lipid reticuloendotheliosis; disease of Hand–Schuller–Christian; disease of Letterer–Siwe/. It is a rare disease and its real frequency is unknown. In a reference center in the U.S. the disease is found in 5% in patients with lung biopsy carried out in connection with the diagnosis of interstitial lun...

The history of a female patient is demonstrated as an example of diagnostic and therapeutical pitfalls in acromegaly. The patient was first operated on a pituitary macroadenoma at her age of 21. Prior to surgery, serum prolactin was found moderately elevated and the patient was raromenorrhoic, without galactorrhea. Soon recurrence of the tumour was trialed with bromocriptine medication, however, without any inhibitory effect on the process. The patient underwent a second neuro...

Introduction: Adrenal neurilemoma (or schwannoma) are vary rare tumors. They usually present as incidental finding in asymptomatic patients, which makes them dificult to diagnose preoperatively.Case report: We present a 60 year old woman with incidentally discovered adrenal mass of 5 cm on the right side. The tumor was detected by ultrasound and then it was confirmed by MSCT scan. We performed careful endocrine workup. Results showed normal levels of uri...

Introduction: Autoimmune polyglandular syndrome type II is defined by the occurrence of Addison’s disease with thyroid autoimmune disease and/or type I diabetes mellitus.Case presentation: A seventy-four-years old woman came to the hospital due to fatigue, nausea, vomiting and skin hyperpigmentation that had begun two months ago. On clinical examination, the patient had hyperpigmentation throughout the skin, large dark brown areas on the lips and th...

Introduction: Elephantiasis nostras verrucosa (ENV) is a rare, chronic, deforming disorder characterized by hyperkeratosis and papillomatosis of the epidermis with underlying woody fibrosis of the dermis and subcutaneous tissue resulting from chronic nonfilarial lymphoedema. Lymphatic obstruction can be primary or due to various causes such as surgery, tumour, radiation, congestive heart failure or obesity. However, to the best of our knowledge, it has not been reported as a p...

Introduction: SIADH is a disorder of sodium and water balance characterized by hypotonic hyponatremia and impaired urinary dilution in the absence of renal disease or any identifiable non-osmotic stimulus known to relase ADH. SIADH is usually observed in hospitalized patients and its prevalence may be as high as 35%.Case Report: A 70 year old women was admitted to the Medicine and Rehabilitation Clinical Institute of Aosta on October 2011. She had a chan...

Introduction: Pituitary insufficiency of the adult is a rare pathology (~30–40/1 000 000 per year). Among the acquired causes, Sheehan syndrome (SS) is often characterized by an insidious evolution, which allows it to pass unnoticed for a long time.Case report: R Maria, 58 years-old, known with SS for 10 years, was hospitalized in the ER with severe asthenia, obnubilation, symptomatic arterial hypotension. Laboratory studies revealed severe hyponatr...

Pregnancy in acromegalic patients is an infrequent event, but with earlier diagnosis and advanced surgical/medical management, more affected women get pregnant.The use of Somatostatin analogues (SSA) during pregnancy seems safe, but there are few reported pregnancies under this treatment.We report two acromegalic patients treated with SSA that became pregnant.Case 1: Thirty-three year old woman diagnosed with...

Introduction: Acromegaly and Waldenstrom’s macroglobulinaemia are two rare diseases (about 3–4 and 10 cases/million per year respectively), the association between them is even more infrequent, one case being reported in the available literature.Case report: We present the case of a 74-years-old female (I.I.) suffering with both diseases. In 1997 acromegaly diagnosed by dysmorphic syndrome, than in 2004 hormonal/imagistical investigations (GH a...

A 60-year-old woman with a previous history of twice transsphenoidal pituitary surgery due to acromegaly,had a surgery with a presumed diagnosis of bladder stone. She was reevaluated after the surgery when her hematuria persisted. Percutaneous nephrolitotomy was planned. when multiple stones were identified in the left ureter, but the operation had to be postponed till the achievement of glycemic control. At the meantime endocrinological evaluation revealed a 30×15 mm mac...

Introduction: Sheehan’s syndrome presents with hypopituitarism of variable severity after parturition usually preceded by post partum hemorrhage. Recovery of lactotroph function after initial insult has not been reported in the literature.Case report: A 41-year woman delivered her 1st child in 1994 at the age of 25 years, complicated by profuse vaginal bleeding and received two blood transfusions at a city hospital. She had lactation failure ...

Introduction: Prolactinomas are rare in childhood and adolescence, representing a half of pituitary adenomas (1% of intracranial tumors); macroadenomas are more frequent than microadenomas. The signs and symptoms depend on age, sex, tumor size and prolactin level. Due to a higher frequency of macroadenomas in boys, they present more often neuro-ophthalmologic findings (impaired vision, headache)Case report: We present a case of 25-year-old pacient diagno...

Introduction: Hypoglycaemia in a non-diabetic patient is not a common condition and is often a diagnostic challenge.Case report: A 78-year-old gentleman was admitted to hospital by paramedics when his neighbours found him unresponsive. He had a background history of primary hypothyroidism. Capillary blood glucose reading done on site was 1.0 mmol/l. He received intravenous glucose which resulted in prompt recovery. All other vital signs were normal.<...

Introduction: Central diabetes insipidus (CDI) is produced by the destruction of the magnocellular neurons of the hypothalamic supraoptic and paraventricular nuclei which results in decreased arginine vasopressin (AVP) synthesis and secretion.Case report 1: Forty-five year old female, previously healthy, was observed in April 2011 complaining of polydipsia, polyuria, nocturia and weight loss since January. Diabetes mellitus (DM) was excluded and she was ...

Prolactinomas represent 60% of primary pituitary tumors, galactorrrhoea and menstrual disturbances beeing the most frequent clinical features in women. The mass effect of macroadenomas is expressed by headache, visual field defects and hypopituitarism. The aims of therapy are reduction of tumour size, prevention of tumour expansion and restoration of gonadal function. Dopamine agonists normalize prolactin secretion and reduce tumour size in 40% of patients with macroadenoma.</...

Introduction: Primary aldosteronism (PA) is currently believed to be the most frequent form of secondary endocrine hypertension, accounting for 5–10% of all hypertensive patients. After confirming the diagnosis, adrenal venous sampling (AVS) is considered the most accurate means of distinguishing between unilateral and bilateral adrenal disease.Case report: Female patient, 36 years-old, referred to an Endocrinology appointment in May 2009 due to lef...

Introduction: Pheochromocytoma occasionally associates with pathological lesions of the adrenal cortex. We report a case of non-functional adrenocortical nodular hyperplasia with a concomitant pheochromocytoma in the controlateral adrenal and empty sella.Case report: We describe the case of a 52 year old women with a history of essential hypertension and type 2 diabetes mellitus. She complained of: nausea, abdominal pain, vomiting and constipation. The c...