Diagnosis and Treatment > Intervention > Resection of tumour

You are looking at 71 - 80 of 85 items

Anne Soejbjerg Department of Internal Medicine, Silkeborg Regional Hospital, Silkeborg, Denmark

Search for other papers by Anne Soejbjerg in
Google Scholar
PubMed
Close
,
Suzan Dyve Department of Neurosurgery, Aarhus University Hospital, Aarhus, Denmark

Search for other papers by Suzan Dyve in
Google Scholar
PubMed
Close
,
Steen Baerentzen Department of Pathology, Aarhus University Hospital, Aarhus, Denmark

Search for other papers by Steen Baerentzen in
Google Scholar
PubMed
Close
,
Georg Thorsell Department of Hematology, Aarhus University Hospital, Aarhus, Denmark

Search for other papers by Georg Thorsell in
Google Scholar
PubMed
Close
,
Per L Poulsen Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark

Search for other papers by Per L Poulsen in
Google Scholar
PubMed
Close
,
Jens O L Jorgensen Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark

Search for other papers by Jens O L Jorgensen in
Google Scholar
PubMed
Close
, and
Ulla Kampmann Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark

Search for other papers by Ulla Kampmann in
Google Scholar
PubMed
Close

Summary

Solitary sellar plasmacytomas are exceedingly rare and difficult to distinguish from other pituitary tumors. We report a case of a 62-year-old woman presenting with blurred vision of the right eye and tenderness of the right temporal region, which was interpreted as temporal arteritis. MRI revealed a pituitary mass lesion (20mm×14mm×17mm) without compression of the optic chiasm and her pituitary function was normal. Pituitary surgery was undertaken due to growth of the lesion, and histopathological examination showed a highly cellular neoplasm composed of mature monoclonal plasma cells. Subsequent examinations revealed no evidence of extrasellar myeloma. The patient received pituitary irradiation and has remained well and free of symptoms apart from iatrogenic central diabetes insipidus. Until now, only eight cases of solitary sellar plasmacytoma have been reported. Most frequent symptoms stem from compression of the cranial nerves in the cavernous sinus (III, IV, V), whereas the anterior pituitary function is mostly intact.

Learning points

  • A solitary plasmacytoma is a rare cause of a sellar mass lesion.

  • The radiological and clinical features are nonspecific, but cranial nerve affection and intact pituitary function are usually present.

  • The diagnosis is made histologically and has important therapeutic implications.

Open access
Marco Russo Endocrinology, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy

Search for other papers by Marco Russo in
Google Scholar
PubMed
Close
,
Ilenia Marturano Endocrinology, Department of Clinical and Experimental Medicine, University of Catania, Garibaldi-Nesima Hospital, Catania, Italy

Search for other papers by Ilenia Marturano in
Google Scholar
PubMed
Close
,
Romilda Masucci Surgical Oncology, Garibaldi-Nesima Hospital, Catania, Italy

Search for other papers by Romilda Masucci in
Google Scholar
PubMed
Close
,
Melania Caruso Gynecology and Obstetrics, Garibaldi-Nesima Hospital, Catania, Italy

Search for other papers by Melania Caruso in
Google Scholar
PubMed
Close
,
Maria Concetta Fornito Nuclear Medicine, Garibaldi-Nesima Hospital, Catania, Italy

Search for other papers by Maria Concetta Fornito in
Google Scholar
PubMed
Close
,
Dario Tumino Endocrinology, Department of Clinical and Experimental Medicine, University of Catania, Garibaldi-Nesima Hospital, Catania, Italy

Search for other papers by Dario Tumino in
Google Scholar
PubMed
Close
,
Martina Tavarelli Endocrinology, Department of Clinical and Experimental Medicine, University of Catania, Garibaldi-Nesima Hospital, Catania, Italy

Search for other papers by Martina Tavarelli in
Google Scholar
PubMed
Close
,
Sebastiano Squatrito Endocrinology, Department of Clinical and Experimental Medicine, University of Catania, Garibaldi-Nesima Hospital, Catania, Italy

Search for other papers by Sebastiano Squatrito in
Google Scholar
PubMed
Close
, and
Gabriella Pellegriti Endocrinology, Garibaldi-Nesima Hospital, Catania, Italy

Search for other papers by Gabriella Pellegriti in
Google Scholar
PubMed
Close

Summary

Struma ovarii is a rare ovarian teratoma characterized by the presence of thyroid tissue as the major component. Malignant transformation of the thyroidal component (malignant struma ovarii) has been reported in approximately 5% of struma ovarii. The management and follow-up of this unusual disease remain controversial. We report the case of a woman with a history of autoimmune thyroiditis and a previous resection of a benign struma ovarii that underwent hystero-annexiectomy for malignant struma ovarii with multiple papillary thyroid cancer foci and peritoneal involvement. Total thyroidectomy and subsequent radioiodine treatment lead to complete disease remission after 104 months of follow-up. The diagnosis and natural progression of malignant struma ovarii are difficult to discern, and relapses can occur several years after diagnosis. A multidisciplinary approach is mandatory; after surgical excision of malignant struma, thyroidectomy in combination with 131I therapy should be considered after risk stratification in accordance with a standard approach in differentiated thyroid cancer patients.

Learning points

  • Malignant struma ovarii is a rare disease; diagnosis is difficult and management is not well defined.

  • Predominant sites of metastasis are adjacent pelvic structures.

  • Thyroidectomy and 131I therapy should be considered after risk stratification in accordance with standard approaches in DTC patients.

Open access
Dimitrios Haidopoulos Department of Obstetrics and Gynecology, Alexandra Hospital, University of Athens, 80 Vas Sofias Avenue, Athens, Greece

Search for other papers by Dimitrios Haidopoulos in
Google Scholar
PubMed
Close
,
George Bakolas Department of Obstetrics and Gynecology, Alexandra Hospital, University of Athens, 80 Vas Sofias Avenue, Athens, Greece

Search for other papers by George Bakolas in
Google Scholar
PubMed
Close
, and
Lina Michala Department of Obstetrics and Gynecology, Alexandra Hospital, University of Athens, 80 Vas Sofias Avenue, Athens, Greece

Search for other papers by Lina Michala in
Google Scholar
PubMed
Close

Summary

Turner syndrome (TS) has been linked to a number of autoimmune conditions, including lichen sclerosus (LS), at an estimated prevalence of 17%. LS is a known precursor to vulvar cancer. We present a case of vulvar cancer in a 44-year-old woman, who had previously complained of pruritus in the area, a known symptom of LS. Histology confirmed a squamous cell carcinoma with underlying LS. Vulvar assessment for the presence of LS should be undertaken regularly as part of the routine assessments proposed for adult TS women. If LS is identified, then the patient should be warned of the increased risk of vulvar cancer progression and should be monitored closely for signs of the condition.

Learning points

  • Patients with TS are at increased risk of developing LS.

  • LS is a known precursor to vulvar cancer.

  • TS women with LS may be at risk of developing vulvar cancer and should be offered annual vulvar screening and also be aware of signs and symptoms of early vulvar cancer.

Open access
Jerena Manoharan Department of Visceral Thoracic and Vascular Surgery, Philipps University Marburg, Baldingerstrasse35043, Marburg, Germany

Search for other papers by Jerena Manoharan in
Google Scholar
PubMed
Close
,
Caroline L Lopez Department of Visceral Thoracic and Vascular Surgery, Philipps University Marburg, Baldingerstrasse35043, Marburg, Germany

Search for other papers by Caroline L Lopez in
Google Scholar
PubMed
Close
,
Karl Hackmann Faculty of Medicine Carl Gustav Carus, Institute for Clinical Genetics, TU Dresden, Fetscherstrasse 7401307, Dresden, Germany
German Cancer Consortium (DKTK), Dresden, Germany, German Cancer Research Center (DKFZ), Heidelberg, Germany, National Center for Tumor Diseases (NCT), Dresden, Germany

Search for other papers by Karl Hackmann in
Google Scholar
PubMed
Close
,
Max B Albers Department of Visceral Thoracic and Vascular Surgery, Philipps University Marburg, Baldingerstrasse35043, Marburg, Germany

Search for other papers by Max B Albers in
Google Scholar
PubMed
Close
,
Anika Pehl Department of Pathology, Philipps University Marburg, Baldingerstrasse35043, Marburg, Germany

Search for other papers by Anika Pehl in
Google Scholar
PubMed
Close
,
Peter H Kann Division of Endocrinology and Diabetology, Department of Gastroenterology and Endocrinology, Philipps University Marburg, Baldingerstrasse35043, Marburg, Germany

Search for other papers by Peter H Kann in
Google Scholar
PubMed
Close
,
Emily P Slater Department of Visceral Thoracic and Vascular Surgery, Philipps University Marburg, Baldingerstrasse35043, Marburg, Germany

Search for other papers by Emily P Slater in
Google Scholar
PubMed
Close
,
Evelin Schröck Faculty of Medicine Carl Gustav Carus, Institute for Clinical Genetics, TU Dresden, Fetscherstrasse 7401307, Dresden, Germany
German Cancer Consortium (DKTK), Dresden, Germany, German Cancer Research Center (DKFZ), Heidelberg, Germany, National Center for Tumor Diseases (NCT), Dresden, Germany

Search for other papers by Evelin Schröck in
Google Scholar
PubMed
Close
, and
Detlef K Bartsch Department of Visceral Thoracic and Vascular Surgery, Philipps University Marburg, Baldingerstrasse35043, Marburg, Germany

Search for other papers by Detlef K Bartsch in
Google Scholar
PubMed
Close

Summary

We report about a young female who developed an unusual and an aggressive phenotype of the MEN1 syndrome characterized by the development of a pHPT, malignant non-functioning pancreatic and duodenal neuroendocrine neoplasias, a pituitary adenoma, a non-functioning adrenal adenoma and also a malignant jejunal NET at the age of 37 years. Initial Sanger sequencing could not detect a germline mutation of the MEN1 gene, but next generation sequencing and MPLA revealed a deletion of the MEN1 gene ranging between 7.6 and 25.9 kb. Small intestine neuroendocrine neoplasias (SI-NENs) are currently not considered to be a part of the phenotype of the MEN1-syndrome. In our patient the SI-NENs were detected during follow-up imaging on Ga68-Dotatoc PET/CT and could be completely resected. Although SI-NENs are extremely rare, these tumors should also be considered in MEN1 patients. Whether an aggressive phenotype or the occurrence of SI-NENs in MEN1 are more likely associated with large deletions of the gene warrants further investigation.

Learning points

  • Our patient presents an extraordinary course of disease.

  • Although SI-NENs are extremely rare, these tumors should also be considered in MEN1 patients, besides the typical MEN1 associated tumors.

  • This case reports indicate that in some cases conventional mutation analysis of MEN1 patients should be supplemented by the search for larger gene deletions with modern techniques, if no germline mutation could be identified by Sanger sequencing.

Open access
Ahmed Iqbal Department of Diabetes and Endocrinology, Northern General Hospital, Sheffield Teaching Hospitals NHS Foundation Trust, Herries Road, Sheffield, S5 7AU, UK

Search for other papers by Ahmed Iqbal in
Google Scholar
PubMed
Close
,
Peter Novodvorsky Department of Diabetes and Endocrinology, Northern General Hospital, Sheffield Teaching Hospitals NHS Foundation Trust, Herries Road, Sheffield, S5 7AU, UK

Search for other papers by Peter Novodvorsky in
Google Scholar
PubMed
Close
,
Alexandra Lubina-Solomon Department of Diabetes and Endocrinology, Northern General Hospital, Sheffield Teaching Hospitals NHS Foundation Trust, Herries Road, Sheffield, S5 7AU, UK

Search for other papers by Alexandra Lubina-Solomon in
Google Scholar
PubMed
Close
,
Fiona M Kew Department of Gynaecological Oncology, Royal Hallamshire Hospital, Sheffield Teaching Hospitals NHS Foundation Trust, Glossop Road, Sheffield, S10 2JF, UK

Search for other papers by Fiona M Kew in
Google Scholar
PubMed
Close
, and
Jonathan Webster Department of Diabetes and Endocrinology, Northern General Hospital, Sheffield Teaching Hospitals NHS Foundation Trust, Herries Road, Sheffield, S5 7AU, UK

Search for other papers by Jonathan Webster in
Google Scholar
PubMed
Close

Summary

Secondary amenorrhoea and galactorrhoea represent a common endocrine presentation. We report a case of an oestrogen-producing juvenile granulosa cell tumour (JGCT) of the ovary in a 16-year-old post-pubertal woman with hyperprolactinaemia amenorrhoea and galactorrhoea which resolved following surgical resection of the tumour. This patient presented with a 9-month history of secondary amenorrhoea and a 2-month history of galactorrhoea. Elevated serum prolactin at 7081 mIU/l and suppressed gonadotropins (LH <0.1 U/l; FSH <0.1 U/l) were detected. Serum oestradiol was significantly elevated at 7442 pmol/l with undetectable β-human chorionic gonadotropin. MRI showed a bulky pituitary with no visible adenoma. MRI of the abdomen showed a 4.8 cm mass arising from the right ovary with no evidence of metastatic disease. Serum inhibin B was elevated at 2735 ng/l. A right salpingo-oophorectomy was performed, and histology confirmed the diagnosis of a JGCT, stage International Federation of Gynaecology and Obstetrics 1A. Immunohistochemical staining for prolactin was negative. Post-operatively, oestrogen and prolactin levels were normalised, and she subsequently had a successful pregnancy. In summary, we present a case of an oestrogen-secreting JGCT with hyperprolactinaemia manifesting clinically with galactorrhoea and secondary amenorrhoea. We postulate that observed hyperprolactinaemia was caused by oestrogenic stimulation of pituitary lactotroph cells, a biochemical state analogous to pregnancy. To the best of our knowledge, this is the first report of hyperprolactinaemia as a result of excessive oestrogen production in the context of a JGCT.

Learning points

  • Hyperprolactinaemia with bilateral galactorrhoea and secondary amenorrhoea has a wide differential diagnosis and is not always caused by a prolactin secreting pituitary adenoma.

  • Significantly elevated serum oestradiol levels in the range seen in this case, in the absence of pregnancy, are indicative of an oestrogen-secreting tumour.

  • JGCTs are rare hormonally active ovarian neoplasms mostly secreting steroid hormones.

  • Serum inhibin can be used as a granulosa cell-specific tumour marker.

  • JGCTs have an excellent prognosis in the early stages of the disease.

Open access
Kharis Burns Department of Diabetes and Endocrinology, Westmead Hospital, Sydney, 2145, Australia
Faculty of Medicine, Westmead Hospital, University of Sydney, Sydney, 2145, Australia

Search for other papers by Kharis Burns in
Google Scholar
PubMed
Close
,
Darshika Christie-David Faculty of Medicine, Westmead Hospital, University of Sydney, Sydney, 2145, Australia
Department of Endocrinology, Royal North Shore Hospital, St Leonards, 2065, Australia

Search for other papers by Darshika Christie-David in
Google Scholar
PubMed
Close
, and
Jenny E Gunton Department of Diabetes and Endocrinology, Westmead Hospital, Sydney, 2145, Australia
Faculty of Medicine, Westmead Hospital, University of Sydney, Sydney, 2145, Australia
St Vincent's Clinical School, University of New South Wales, Sydney, 2010, Australia
Diabetes and Transcription Factors Group, Garvan Institute of Medical Research (GIMR), Sydney, 2010, Australia
Department of Diabetes, Obesity and Endocrinology, The Westmead Institute for Medical Research, The University of Sydney, Sydney, 2045, Australia

Search for other papers by Jenny E Gunton in
Google Scholar
PubMed
Close

Summary

Ketoconazole was a first-line agent for suppressing steroidogenesis in Cushing's disease. It now has limited availability. Fluconazole, another azole antifungal, is an alternative, although its in vivo efficacy is unclear. A 61-year-old female presented with weight gain, abdominal striae and worsening depression. HbA1c increased to 76 mmol/mol despite increasing insulin. Investigations confirmed cortisol excess; afternoon serum cortisol was 552 nmol/l with an inappropriate ACTH of 9.3 pmol/l. In total, 24-h urinary free cortisol (UFC):creatinine ratio was 150 nmol/mmol with failure to suppress after 48 h of low-dose dexamethasone. Pituitary MRI revealed a 4-mm microadenoma. Inferior petrosal sinus sampling confirmed Cushing's disease. Transsphenoidal resection was performed and symptoms improved. However, disease recurred 6 months later with elevated 24-h UFC >2200 nmol/day. Metyrapone was commenced at 750 mg tds. Ketoconazole was later added at 400 mg daily, with dose reduction in metyrapone. When ketoconazole became unavailable, fluconazole 200 mg daily was substituted. Urine cortisol:creatinine ratio rose, and the dose was increased to 400 mg daily with normalisation of urine hormone levels. Serum cortisol and urine cortisol:creatinine ratios remain normal on this regimen at 6 months. In conclusion, to our knowledge, this is the first case demonstrating prolonged in vivo efficacy of fluconazole in combination with low-dose metyrapone for the treatment of Cushing's disease. Fluconazole has a more favourable toxicity profile, and we suggest that it is a potential alternative for medical management of Cushing's disease.

Learning points

  • Surgery remains first line for the management of Cushing's disease with pharmacotherapy used where surgery is unsuccessful or there is persistence of cortisol excess.

  • Ketoconazole has previously been used to treat cortisol excess through inhibition of CYP450 enzymes 11-β-hydroxylase and 17-α-hydroxylase, though its availability is limited in many countries.

  • Fluconazole shares similar properties to ketoconazole, although it has less associated toxicity.

  • Fluconazole represents a suitable alternative for the medical management of Cushing's disease and proved an effective addition to metyrapone in the management of this case.

Open access
Taiba Zornitzki Endocrinology, Diabetes and Metabolic Unit, Kaplan Medical Center, Hebrew University Medical School of Jerusalem, Bilu 176100, Rehovot, Israel

Search for other papers by Taiba Zornitzki in
Google Scholar
PubMed
Close
,
Hadara Rubinfeld Institute of Endocrinology and Felsenstein Medical Research Center, Rabin Medical Center, Petach Tikva, 49100, Israel
Sackler School of Medicine, Tel-Aviv University, Tel Aviv, 69978, Israel

Search for other papers by Hadara Rubinfeld in
Google Scholar
PubMed
Close
,
Lyudmila Lysyy Endocrinology, Diabetes and Metabolic Unit, Kaplan Medical Center, Hebrew University Medical School of Jerusalem, Bilu 176100, Rehovot, Israel

Search for other papers by Lyudmila Lysyy in
Google Scholar
PubMed
Close
,
Tal Schiller Endocrinology, Diabetes and Metabolic Unit, Kaplan Medical Center, Hebrew University Medical School of Jerusalem, Bilu 176100, Rehovot, Israel

Search for other papers by Tal Schiller in
Google Scholar
PubMed
Close
,
Véronique Raverot Laboratoire d'Hormonologie – CBPE, Hospices Civils de Lyon, 59 bd Pinel69677, Bron Cedex, France

Search for other papers by Véronique Raverot in
Google Scholar
PubMed
Close
,
Ilan Shimon Institute of Endocrinology and Felsenstein Medical Research Center, Rabin Medical Center, Petach Tikva, 49100, Israel
Sackler School of Medicine, Tel-Aviv University, Tel Aviv, 69978, Israel

Search for other papers by Ilan Shimon in
Google Scholar
PubMed
Close
, and
Hilla Knobler Endocrinology, Diabetes and Metabolic Unit, Kaplan Medical Center, Hebrew University Medical School of Jerusalem, Bilu 176100, Rehovot, Israel

Search for other papers by Hilla Knobler in
Google Scholar
PubMed
Close

Summary

Acromegaly due to ectopic GHRH secretion from a neuroendocrine tumor (NET) is rare and comprises <1% of all acromegaly cases. Herein we present a 57-year-old woman with clinical and biochemical features of acromegaly and a 6 cm pancreatic NET (pNET), secreting GHRH and calcitonin. Following surgical resection of the pancreatic tumor, IGF1, GH and calcitonin normalized, and the clinical features of acromegaly improved. In vitro studies confirmed that the tumor secreted large amounts of both GHRH and calcitonin, and incubation of pNET culture-derived conditioned media stimulated GH release from a cultured human pituitary adenoma. This is a unique case of pNET secreting both GHRH and calcitonin. The ability of the pNET-derived medium to stimulate in vitro GH release from a human pituitary-cell culture, combined with the clinical and hormonal remission following tumor resection, confirmed the ectopic source of acromegaly in this patient.

Learning points

  • Signs, symptoms and initial work-up of acromegaly due to ectopic GHRH secretion are similar to pituitary-dependent acromegaly. However, if no identifiable pituitary lesion is found, somatostatin receptor scan and further imaging (CT, MRI) should be performed.

  • Detection of GHRH in the blood and in the tumor-derived medium supports the diagnosis of ectopic GHRH secretion.

  • Functional bioactivity of pNET-secreted GHRH can be proved in vitro by releasing GH from human pituitary cells.

Open access
Niki Margari Department of Endocrinology and Diabetes, Royal London Hospital, Barts Health NHS Trust, London, UK

Search for other papers by Niki Margari in
Google Scholar
PubMed
Close
,
Jonathan Pollock Department of Neurosurgery, Queens Hospital, Barking Havering and Redbridge University Hospitals NHS Trust, Romford, Essex, UK

Search for other papers by Jonathan Pollock in
Google Scholar
PubMed
Close
, and
Nemanja Stojanovic Department of Endocrinology and Diabetes, Queens Hospital, Barking Havering and Redbridge University Hospitals NHS Trust, Romford, Essex, UK

Search for other papers by Nemanja Stojanovic in
Google Scholar
PubMed
Close

Summary

Prolactinomas constitute the largest subsection of all secretory pituitary adenomas. Most are microprolactinomas and are satisfactorily treated by medical management alone. Giant prolactinomas, measuring more than 4 cm in diameter, are rare and usually occur more commonly in men. Macroprolatinomas tend to present with symptoms of mass effect rather than those of hyperprolactinaemia. Dopamine agonists (DA) are the treatment of choice for all prolactinomas. Surgery is usually reserved for DA resistance or if vision is threatened by the mass effects of the tumour. We describe the case of a 52 year-old woman with a giant invasive prolactinoma who required multiple surgical procedures as well as medical management with DA. One of the surgical interventions required a posterior approach via the trans cranial sub occipital transtentorial approach, a surgical technique that has not been previously described in the medical literature for this indication. The giant prolactinoma was reduced significantly with the above approach and patient symptoms from the compressing effects of the tumour were resolved. This case highlights the importance of a multidisciplinary approach to the management of such patients who present with florid neurological sequelae secondary to pressure effects. Although this presentation is uncommon, surgery via a sub occipital transtentorial approach may be considered the treatment of choice in suitable patients with giant invasive prolactinomas compressing the brainstem.

Learning points

  • Giant prolactinomas present with symptoms of mass effect or those of hyperprolactinaemia.

  • Interpretation of the pituitary profile is crucial to guide further investigations and management.

  • Treatment of giant invasive prolactinomas may involve a combination of medical management and multiple surgical interventions.

  • Treatment with DA may cause pituitary haemorrhage or infarction in patients with these tumours.

  • A sub occipital transtetorial approach may be considered the treatment of choice in invasive prolactinomas compressing the brainstem.

  • Multidisciplinary approach of such patients is fundamental for a better outcome.

Open access
Asma Deeb Paediatric Endocrinology Department, Mafraq Hospital, Abu Dhabi, UAE

Search for other papers by Asma Deeb in
Google Scholar
PubMed
Close
,
Hana Al Suwaidi Paediatric Endocrinology Department, Mafraq Hospital, Abu Dhabi, UAE

Search for other papers by Hana Al Suwaidi in
Google Scholar
PubMed
Close
,
Salima Attia Paediatric Endocrinology Department, Mafraq Hospital, Abu Dhabi, UAE

Search for other papers by Salima Attia in
Google Scholar
PubMed
Close
, and
Ahlam Al Ameri Paediatric Endocrinology Department, Mafraq Hospital, Abu Dhabi, UAE

Search for other papers by Ahlam Al Ameri in
Google Scholar
PubMed
Close

Summary

Combined17α-hydroxylase/17,20-lyase deficiency is a rare cause of congenital adrenal hyperplasia and hypogonadism. Hypertension and hypokalemia are essential presenting features. We report an Arab family with four affected XX siblings. The eldest presented with abdominal pain and was diagnosed with a retroperitoneal malignant mixed germ cell tumour. She was hypertensive and hypogonadal. One sibling presented with headache due to hypertension while the other two siblings were diagnosed with hypertension on a routine school check. A homozygous R96Q missense mutation in P450c17 was detected in the index case who had primary amenorrhea and lack of secondary sexual characters at 17 years. The middle two siblings were identical twins and had no secondary sexual characters at the age of 14. All siblings had hypokalemia, very low level of adrenal androgens, high ACTH and high levels of aldosterone substrates. Treatment was commenced with steroid replacement and puberty induction with estradiol. The index case had surgical tumor resection and chemotherapy. All siblings required antihypertensive treatment and the oldest remained on two antihypertensive medications 12 years after diagnosis. Her breast development remained poor despite adequate hormonal replacement. Combined 17α-hydroxylase/17,20-lyase deficiency is a rare condition but might be underdiagnosed. It should be considered in young patients presenting with hypertension, particularly if there is a family history of consanguinity and with more than one affected sibling. Antihypertensive medication might continue to be required despite adequate steroid replacement. Breast development may remain poor in mutations causing complete form of the disease.

Learning points

  • Endocrine hypertension due to rarer forms of CAH should be considered in children and adolescents, particularly if more than one sibling is affected and in the presence of consanguinity.

  • 17α-hydroxylase/17,20-lyase deficiency is a rare form of CAH but might be underdiagnosed.

  • Blood pressure measurement should be carried out in all females presenting with hypogonadism.

  • Anti-hypertensive medications might be required despite adequate steroid replacement.

  • Initial presenting features might vary within affected members of the same family.

  • Adverse breast development might be seen in the complete enzyme deficiency forms of the disease.

Open access
Reiner Jumpertz von Schwartzenberg Department of Endocrinology and Metabolic Diseases, Charité – Universitätsmedizin, Charitéplatz 1, Berlin, 10117, Germany

Search for other papers by Reiner Jumpertz von Schwartzenberg in
Google Scholar
PubMed
Close
,
Ulf Elbelt Department of Endocrinology and Metabolic Diseases, Charité – Universitätsmedizin, Charitéplatz 1, Berlin, 10117, Germany

Search for other papers by Ulf Elbelt in
Google Scholar
PubMed
Close
,
Manfred Ventz Department of Endocrinology and Metabolic Diseases, Charité – Universitätsmedizin, Charitéplatz 1, Berlin, 10117, Germany

Search for other papers by Manfred Ventz in
Google Scholar
PubMed
Close
,
Knut Mai Department of Endocrinology and Metabolic Diseases, Charité – Universitätsmedizin, Charitéplatz 1, Berlin, 10117, Germany

Search for other papers by Knut Mai in
Google Scholar
PubMed
Close
,
Tina Kienitz Department of Endocrinology and Metabolic Diseases, Charité – Universitätsmedizin, Charitéplatz 1, Berlin, 10117, Germany

Search for other papers by Tina Kienitz in
Google Scholar
PubMed
Close
,
Lukas Maurer Department of Endocrinology and Metabolic Diseases, Charité – Universitätsmedizin, Charitéplatz 1, Berlin, 10117, Germany

Search for other papers by Lukas Maurer in
Google Scholar
PubMed
Close
,
Thomas Rose Division of Rheumatology and Clinical Immunology, Medical Department, Charité – Universitätsmedizin, Charitéplatz 1, Berlin, 10117, Germany

Search for other papers by Thomas Rose in
Google Scholar
PubMed
Close
,
Jens C Rückert Department of General Visceral Vascular and Thoracic Surgery, Charité – Universitätsmedizin, Charitéplatz 1, Berlin, 10117, Germany

Search for other papers by Jens C Rückert in
Google Scholar
PubMed
Close
,
Christian J Strasburger Department of Endocrinology and Metabolic Diseases, Charité – Universitätsmedizin, Charitéplatz 1, Berlin, 10117, Germany

Search for other papers by Christian J Strasburger in
Google Scholar
PubMed
Close
, and
Joachim Spranger Department of Endocrinology and Metabolic Diseases, Charité – Universitätsmedizin, Charitéplatz 1, Berlin, 10117, Germany

Search for other papers by Joachim Spranger in
Google Scholar
PubMed
Close

Parathyroid carcinoma is a rare disease leading to severe hypercalcemia due to hyperparathyroidism. Surgery is the primary treatment option. A more progressive form of the disease is characterized by parathyrotoxicosis, and subsequent hypercalcemia is the most common cause of death. We report a case presenting with severe hypercalcemia due to parathyrotoxicosis from parathyroid carcinoma treated for the first time using the monoclonal antibody denosumab as a rescue therapy and present long-term follow-up data. The 71-year-old patient presented with severe hypercalcemia due to metastatic parathyroid carcinoma. Despite undergoing treatment with bisphosphonates, cinacalcet hydrochloride, and forced diuresis, the patient`s condition deteriorated rapidly due to resistant hypercalcemia. Surgery performed because of spinal metastasis and forced diuresis lowered calcium levels, albeit they remained in the hypercalcemic range and significantly increased when forced diuresis was stopped. Considering a palliative situation to overcome hypercalcemia, we decided to administer denosumab, a monoclonal antibody that binds to the receptor activator of nuclear factor-kappa B ligand. After a single subcutaneous administration of 60 mg denosumab, calcium levels normalized within one day. Subsequent denosumab injections led to permanent control of serum calcium for more than 2 years despite rising parathyroid hormone levels and repeated surgeries. Together with recent cases in the literature supporting our observation, we believe that denosumab is relevant for future trials and represents an effective tool to control hypercalcemia in patients with advanced stages of parathyroid cancer.

Learning points

  • Severe hypercalcemia is the most common cause of death in patients with parathyroid carcinoma.

  • The monoclonal antibody denosumab rapidly lowered severely elevated serum calcium levels due to parathyrotoxicosis.

  • Denosumab was effective in the long-term treatment of hypercalcemia despite progression of parathyroid carcinoma.

Open access