Diagnosis and Treatment > Investigation > Oestradiol (E2)

You are looking at 21 - 27 of 27 items

Nicole Maison Endocrine Research Unit, Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, Munich, Germany

Search for other papers by Nicole Maison in
Google Scholar
PubMed
Close
,
Esther Korpershoek Department of Pathology, Erasmus MC Cancer Institute, University Medical Center Rotterdam, Rotterdam, The Netherlands

Search for other papers by Esther Korpershoek in
Google Scholar
PubMed
Close
,
Graeme Eisenhofer Department of Medicine III, Institute of Clinical Chemistry and Laboratory Medicine, Technische Universität Dresden, Dresden, Germany

Search for other papers by Graeme Eisenhofer in
Google Scholar
PubMed
Close
,
Mercedes Robledo Hereditary Endocrine Cancer Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO) and ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain

Search for other papers by Mercedes Robledo in
Google Scholar
PubMed
Close
,
Ronald de Krijger Department of Pathology, Erasmus MC Cancer Institute, University Medical Center Rotterdam, Rotterdam, The Netherlands
Department of Pathology, Reinier de Graaf Hospital, Delft, The Netherlands

Search for other papers by Ronald de Krijger in
Google Scholar
PubMed
Close
, and
Felix Beuschlein Endocrine Research Unit, Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, Munich, Germany

Search for other papers by Felix Beuschlein in
Google Scholar
PubMed
Close

Summary

Pheochromocytomas (PCC) and paraganglioma (PGL) are rare neuroendocrine tumors arising from chromaffin cells of the neural crest. Mutations in the RET-proto-oncogene are associated with sporadic pheochromocytoma, familial or sporadic medullary thyroid carcinoma (MTC) and multiple endocrine neoplasia type 2. In the past, only few cases of pigmented PCCs, PGLs, and one case of pigmented MTC have been reported in the literature. Herein, we present the case of a 77-year old woman with a history of Tako-tsubo-cardiomyopathy and laboratory, as well as radiological, high suspicion of pheochromocytoma, who underwent left-sided adrenalectomy. The 3 cm tumor, which was located on the upper pole of the left adrenal, appeared highly pigmented with dark red to black color. Histologic examinations revealed highly pleomorphic cells with bizarre, huge hyperchromatic nuclei, that immunohistochemically were positive for chromogranin A and synaptophysin, focally positive for HMB45 and negative for melan A. These clinical and pathological features led to the diagnosis of the rare variant of a melanotic ‘black’ pheochromocytoma. In our case a somatic RET mutation in exon 16 (RET c.2753T>C, p.Met918Thy) was detected by targeted next generation sequencing. In summary, this case represents a rare variant of catecholamine-producing tumor with distinct histological features. A potential relationship between the phenotype, the cellular origin and the genetic alterations is discussed.

Learning points

  • Pheochromocytoma is a rare neuroendocrine tumor.

  • Pigmentation is seen in several types of tumors arising from the neural crest. The macroscopic black aspect can mislead to the diagnosis of a metastasis deriving from a malignant melanoma.

  • RET mutation are seen in catecholamine and non-catecholamine producing tumors of the same cellular origin.

Open access
W C Candy Sze Department of Endocrinology, St Bartholomew's Hospital, London, EC1A 7BE, UK

Search for other papers by W C Candy Sze in
Google Scholar
PubMed
Close
,
Joe McQuillan Department of Ophthalmology, St Bartholomew's Hospital, London, EC1A 7BE, UK

Search for other papers by Joe McQuillan in
Google Scholar
PubMed
Close
,
P Nicholas Plowman Department of Clinical Oncology, St Bartholomew's Hospital, London, EC1A 7BE, UK

Search for other papers by P Nicholas Plowman in
Google Scholar
PubMed
Close
,
Niall MacDougall Department of Clinical Oncology, St Bartholomew's Hospital, London, EC1A 7BE, UK

Search for other papers by Niall MacDougall in
Google Scholar
PubMed
Close
,
Philip Blackburn Gamma Knife Unit, St Bartholomew's Hospital, London, EC1A 7BE, UK

Search for other papers by Philip Blackburn in
Google Scholar
PubMed
Close
,
H Ian Sabin Gamma Knife Unit, St Bartholomew's Hospital, London, EC1A 7BE, UK

Search for other papers by H Ian Sabin in
Google Scholar
PubMed
Close
,
Nadeem Ali Department of Ophthalmology, St Bartholomew's Hospital, London, EC1A 7BE, UK

Search for other papers by Nadeem Ali in
Google Scholar
PubMed
Close
, and
William M Drake Department of Endocrinology, St Bartholomew's Hospital, London, EC1A 7BE, UK

Search for other papers by William M Drake in
Google Scholar
PubMed
Close

Summary

We report three patients who developed symptoms and signs of ocular neuromyotonia (ONM) 3–6 months after receiving gamma knife radiosurgery (GKS) for functioning pituitary tumours. All three patients were complex, requiring multi-modality therapy and all had received prior external irradiation to the sellar region. Although direct causality cannot be attributed, the timing of the development of the symptoms would suggest that the GKS played a contributory role in the development of this rare problem, which we suggest clinicians should be aware of as a potential complication.

Learning points

  • GKS can cause ONM, presenting as intermittent diplopia.

  • ONM can occur quite rapidly after treatment with GKS.

  • Treatment with carbamazepine is effective and improve patient's quality of life.

Open access
Sunita M C De Sousa Department of Endocrinology, St Vincent's Hospital, Sydney, New South Wales, Australia
Hormones and Cancer Group, Garvan Institute of Medical Research, 384 Victoria Street, Sydney, New South Wales, 2010, Australia

Search for other papers by Sunita M C De Sousa in
Google Scholar
PubMed
Close
,
Peter Earls Department of Anatomical Pathology, St Vincent's Hospital, Sydney, New South Wales, Australia

Search for other papers by Peter Earls in
Google Scholar
PubMed
Close
, and
Ann I McCormack Department of Endocrinology, St Vincent's Hospital, Sydney, New South Wales, Australia
Hormones and Cancer Group, Garvan Institute of Medical Research, 384 Victoria Street, Sydney, New South Wales, 2010, Australia

Search for other papers by Ann I McCormack in
Google Scholar
PubMed
Close

Summary

Pituitary hyperplasia (PH) occurs in heterogeneous settings and remains under-recognised. Increased awareness of this condition and its natural history should circumvent unnecessary trans-sphenoidal surgery. We performed an observational case series of patients referred to a single endocrinologist over a 3-year period. Four young women were identified with PH manifesting as diffuse, symmetrical pituitary enlargement near or touching the optic apparatus on MRI. The first woman presented with primary hypothyroidism and likely had thyrotroph hyperplasia given prompt resolution with thyroxine. The second and third women were diagnosed with pathological gonadotroph hyperplasia due to primary gonadal insufficiency, with histopathological confirmation including gonadal-deficiency cells in the third case where surgery could have been avoided. The fourth woman likely had idiopathic PH, though she had concomitant polycystic ovary syndrome which is a debated cause of PH. Patients suspected of PH should undergo comprehensive hormonal, radiological and sometimes ophthalmological evaluation. This is best conducted by a specialised multidisciplinary team with preference for treatment of underlying conditions and close monitoring over surgical intervention.

Learning points

  • Normal pituitary dimensions are influenced by age and gender with the greatest pituitary heights seen in young adults and perimenopausal women.

  • Pituitary enlargement may be seen in the settings of pregnancy, end-organ insufficiency with loss of negative feedback, and excess trophic hormone from the hypothalamus or neuroendocrine tumours.

  • PH may be caused or exacerbated by medications including oestrogen, GNRH analogues and antipsychotics.

  • Management involves identification of cases of idiopathic PH suitable for simple surveillance and reversal of pathological or iatrogenic causes where they exist.

  • Surgery should be avoided in PH as it rarely progresses.

Open access
Anita Kuriya Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, McGill University Health Center, 687 Pine Avenue West F 6.58, Montreal, Quebec, Canada H3A 1A1

Search for other papers by Anita Kuriya in
Google Scholar
PubMed
Close
,
David V Morris Division of Endocrinology, McGill University Health Center, 687 Pine Avenue West F 6.58, Montreal, Quebec, Canada H3A 1A1

Search for other papers by David V Morris in
Google Scholar
PubMed
Close
, and
Michael H Dahan Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, McGill University Health Center, 687 Pine Avenue West F 6.58, Montreal, Quebec, Canada H3A 1A1

Search for other papers by Michael H Dahan in
Google Scholar
PubMed
Close

Summary

Cerebral vascular accidents are caused by vasospasm when induced by preeclampsia or by dopamine agonists. However, six arteries nourish the pituitary and prevent against vasospasm-induced damage, which up until now has not been thought to occur. Bromocriptine was used to arrest lactation in a 31-year-old with secondary amenorrhea following preeclampsia and fetal demise at 28 weeks gestation. Tests and history revealed panhypopituitarism not associated with hemorrhage or mass infarction but instead caused by vasospasm. The present study is the first report of pituitary damage from a non-hemorrhagic, vaso-occlusive event in the literature. In keeping with Sheehan's and Simon's syndromes, we have named pituitary damage resulting from vaso-occlusion as Dahan's syndrome, and a literature review suggests that it may be a common and previously overlooked disorder.

Learning points

  • Vasospasm can cause damage to the pituitary gland, although it was not previously believed to do so.

  • Preeclampsia and the use of a dopamine agonist, particularly in the peripartum state, may trigger vasospasm.

  • Vasospasm resulting from dopamine agonists may be a common cause of injury to the pituitary gland, and it may have been overlooked in the past.

Open access
Aysenur Ozderya Division of Endocrinology and Metabolic Diseases, Kartal Dr Lutfi Kirdar Training and Research Hospital, 34890, Istanbul, Turkey

Search for other papers by Aysenur Ozderya in
Google Scholar
PubMed
Close
,
Sule Temizkan Division of Endocrinology and Metabolic Diseases, Kartal Dr Lutfi Kirdar Training and Research Hospital, 34890, Istanbul, Turkey

Search for other papers by Sule Temizkan in
Google Scholar
PubMed
Close
,
Kadriye Aydin Tezcan Division of Endocrinology and Metabolic Diseases, Kartal Dr Lutfi Kirdar Training and Research Hospital, 34890, Istanbul, Turkey

Search for other papers by Kadriye Aydin Tezcan in
Google Scholar
PubMed
Close
,
Feyza Yener Ozturk Division of Endocrinology and Metabolic Diseases, Sisli Etfal Training and Research Hospital, Istanbul, Turkey

Search for other papers by Feyza Yener Ozturk in
Google Scholar
PubMed
Close
, and
Yuksel Altuntas Division of Endocrinology and Metabolic Diseases, Sisli Etfal Training and Research Hospital, Istanbul, Turkey

Search for other papers by Yuksel Altuntas in
Google Scholar
PubMed
Close

Summary

Madelung's disease is a rare fat metabolism disorder characterised by benign multiple symmetric, encapsulated lipomatosis. The exact cause of the disease is unknown; it may be associated with chronic alcoholism and mutations in mitochondrial DNA (A8344G), but there have been cases without these factors reported in the literature. A 29-year-old man with a 6-year history of diabetes mellitus was admitted to our hospital for poorly regulated diabetes and decreased libido. He was not an alcohol consumer. His family history was unremarkable. Physical examination revealed that he had a eunuchoid body shape. There was a symmetric excess fat accumulation in his submandibular, deltoid, nuchal, suprapubic and inguinal areas. He was diagnosed with Madelung's disease, and imaging studies supported the diagnosis. Hormonal evaluation revealed a hypergonadotropic hypogonadism. Karyotype analysis revealed a 47,XXY mutation. Genetic research showed no mitochondrial DNA mutation. Metabolic disorders, such as diabetes mellitus, hyperlipidaemia, hyperuricaemia and liver disease, endocrine gland diseases, such as hypothyroidism, and neurological diseases, such as polyneuropathy and cognitive disorders, may accompany Madelung's disease. The present study represents the first reported case of Madelung's disease accompanied by Klinefelter's syndrome.

Learning points

  • Madelung's disease is a rare fat metabolism disorder characterised by benign multiple symmetric and encapsulated lipid accumulation.

  • The exact cause of the disease is unknown.

  • Metabolic disorders, such as diabetes mellitus, hyperlipidaemia, hyperuricaemia and liver disease, endocrine gland diseases, such as hypothyroidism, and neurological diseases, such as polyneuropathy and cognitive disorders, may accompany Madelung's disease.

Open access
Wann Jia Loh Osteoporosis and Bone Metabolism Unit, Department of Endocrinology, Singapore General Hospital, Academia, 20, College Road, Singapore, 169856, Singapore

Search for other papers by Wann Jia Loh in
Google Scholar
PubMed
Close
,
Kesavan Sittampalam Department of Pathology, Singapore General Hospital, Academia, 20, College Road, Singapore, 169856, Singapore

Search for other papers by Kesavan Sittampalam in
Google Scholar
PubMed
Close
,
Suan Cheng Tan Department of Radiology, Singapore General Hospital, Academia, 20, College Road, Singapore, 169856, Singapore

Search for other papers by Suan Cheng Tan in
Google Scholar
PubMed
Close
, and
Manju Chandran Osteoporosis and Bone Metabolism Unit, Department of Endocrinology, Singapore General Hospital, Academia, 20, College Road, Singapore, 169856, Singapore

Search for other papers by Manju Chandran in
Google Scholar
PubMed
Close

Summary

Erdheim–Chester disease (ECD) is a potentially fatal condition characterized by infiltration of multiple organs by non-Langerhans histiocytes. Although endocrine dysfunction has been reported in association with ECD, to date, there have been no previous reports of empty sella syndrome (ESS) associated with it. We report the case of a patient with ECD who had symptomatic ESS. A 55-year-old man of Chinese ethnicity initially presented with symptoms of heart failure, fatigue and knee joint pain. Physical examination revealed xanthelasma, gynaecomastia, lung crepitations, hepatomegaly and diminished testicular volumes. He had laboratory evidence of hypogonadotrophic hypogonadism, secondary hypoadrenalism and GH deficiency. Imaging studies showed diffuse osteosclerosis of the long bones on X-ray, a mass in the right atrium and thickening of the pleura and of the thoracic aorta on fusion positron emission tomography–computed tomography. Magnetic resonance imaging (MRI) of the brain showed an empty sella. The diagnosis of ECD was confirmed by bone biopsy.

Learning points

  • ECD is a multisystemic disease that can affect the pituitary and other organs. The diagnosis of ECD is based on clinical and radiological features and histology, showing lipid-laden CD68+ CD1a S100 histiocytes surrounded by fibrosis.

  • The finding of xanthelasmas especially in the presence of normal lipid levels in the presence of a multisystem infiltrative disorder should raise the suspicion of ECD.

  • Systemic perturbation of autoimmunity may play a role in the pathogenesis of ECD and is an area that merits further research.

Open access
Siew Hui Foo
Search for other papers by Siew Hui Foo in
Google Scholar
PubMed
Close
and
Shahada A H Sobah Department of Haematology, Ampang Hospital, Selangor, Malaysia

Search for other papers by Shahada A H Sobah in
Google Scholar
PubMed
Close

Summary

Hypopituitarism is a rare presentation of Burkitt's lymphoma (BL). The purpose of this report is to present a case of BL presenting with panhypopituitarism and to review other case reports of lymphoma presenting with pituitary dysfunction to highlight the distinguishing features of these cases from other benign aetiologies of pituitary dysfunction such as non-functioning pituitary adenomas. We reviewed a total of 11 cases of lymphoma presenting with pituitary dysfunction published from 1998 to 2013 including the present case. The demographics, clinical presentations, laboratory features, radiological findings, histological diagnosis, treatment administered and outcomes were described. Of the total number of patients, 45.5% of the cases had diffuse large B-cell lymphoma while 27.3% had BL. Anterior pituitary dysfunction was more common than posterior pituitary dysfunction at presentation. The other common associated presenting symptoms were painful ophthalmoplegia, cranial nerve palsies and constitutional symptoms. Hypothalamic–pituitary abnormalities were often demonstrated radiologically to be associated with cavernous sinus and/or stalk involvement. All patients who completed immunochemotherapy responded haematologically. Pituitary dysfunction also improved in most cases although the recovery tended to be partial. In conclusion, a high index of suspicion of underlying malignancy, such as lymphoma, should be present in patients presenting with acute pituitary dysfunction associated with painful ophthalmoplegia, rapidly evolving neurological features, radiological features atypical of a pituitary adenoma and constitutional symptoms. An early diagnosis is essential as prompt initiation of definitive therapy will induce disease remission and recovery of pituitary dysfunction.

Learning points

  • Hypopituitarism may be the presenting symptom of lymphoma in the absence of associated overt symptoms or signs of a haematological malignancy resulting in delay in diagnosis and institution of treatment.

  • Pituitary dysfunction due to tumour infiltration has a greater tendency to involve the posterior pituitary and infundibulum resulting in diabetes insipidus and hyperprolactinaemia compared with a non-functioning pituitary adenoma.

  • The common associated symptoms of hypopituitarism due to lymphoma infiltration of the hypothalamic–pituitary system include painful ophthalmoplegia, cranial nerve palsies and constitutional symptoms.

  • Radiological abnormalities of the hypothalamic–pituitary region are usually present and often associated with cavernous sinus or stalk involvement.

  • With early institution of definitive treatment, both haematological response and improvement of pituitary dysfunction are expected although the reversal of hypopituitarism tends to be partial and delayed.

  • A high index of suspicion of underlying malignancy such as lymphoma should be present in patients presenting with acute pituitary dysfunction associated with painful ophthalmoplegia, radiological features atypical of pituitary adenomas and constitutional symptoms to enable early diagnosis and prompt initiation of definitive therapy.

Open access