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Clemens Gardemann FH Münster Oecotrophologie, Münster, Germany
Clinic for Pediatrics and Adolescent Medicine/Metabolism Laboratory, Universitätsklinikum Münster, Münster, Germany

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Sonja Knowles FH Münster Oecotrophologie, Münster, Germany

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Thorsten Marquardt Clinic for Pediatrics and Adolescent Medicine/Metabolism Laboratory, Universitätsklinikum Münster, Münster, Germany

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Summary

Traditional guidelines for type 1 diabetics do not restrict carbohydrates to improve clinical outcomes for patients. This paper highlights the favorable blood glucose control outcomes when a type 1 diabetic focuses on caloric intake from protein and healthy fats instead of the traditional carbohydrate-focused meals. We followed a male type 1 diabetic in his 20s adopting a ketogenic diet through a process of slowly lowering total daily carbohydrate intake. Diabetes-related biomarkers were measured throughout the process. Diabetes-related biomarkers saw massive improvements and ended up in the official non-diabetic range. Total daily insulin requirements dropped by 70%. The patient also experienced great improvements in his quality of life. This study demonstrates the possibility of improving diabetes-related biomarkers through dietary changes, which have positive effects on health outcomes in patients living with this disease.

Learning points

  • The adaptation of a ketogenic diet improved diabetes-related biomarkers in this patient.

  • Diabetes-related biomarkers, such as HbA1c, are the main risk factors for developing complications in diabetics.

  • The ketogenic diet is a feasible approach to minimizing the risk of developing complications in diabetics.

  • Total daily insulin requirements dropped by 67% adapting a ketogenic diet.

  • The patient experienced enormous changes in the quality of life after adapting to the new diet.

  • The safe and physiological state of ketosis might be associated with additional benefits for the patient

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Ana Dugic Department for Gastroenterology, Endocrinology and Metabolic Diseases, Bayreuth University Hospital, Friedrich-Alexander University Erlangen-Nuremberg, Bayreuth, Germany

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Michael Kryk Department for Gastroenterology, Endocrinology and Metabolic Diseases, Bayreuth University Hospital, Friedrich-Alexander University Erlangen-Nuremberg, Bayreuth, Germany

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Claudia Mellenthin Department of Surgery, HFR Fribourg, Fribourg, Switzerland

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Christoph Braig Department for Gastroenterology, Endocrinology and Metabolic Diseases, Bayreuth University Hospital, Friedrich-Alexander University Erlangen-Nuremberg, Bayreuth, Germany

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Lorenzo Catanese Department for Nephrology, Angiology and Rheumatology, Bayreuth University Hospital, Friedrich-Alexander University Erlangen-Nuremberg, Bayreuth, Germany

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Sandy Petermann Department for Gastroenterology, Endocrinology and Metabolic Diseases, Bayreuth University Hospital, Friedrich-Alexander University Erlangen-Nuremberg, Bayreuth, Germany

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Jürgen Kothmann Department for Nephrology, Angiology and Rheumatology, Bayreuth University Hospital, Friedrich-Alexander University Erlangen-Nuremberg, Bayreuth, Germany

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Steffen Mühldorfer Department for Gastroenterology, Endocrinology and Metabolic Diseases, Bayreuth University Hospital, Friedrich-Alexander University Erlangen-Nuremberg, Bayreuth, Germany

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Summary

Drinking fruit juice is an increasingly popular health trend, as it is widely perceived as a source of vitamins and nutrients. However, high fructose load in fruit beverages can have harmful metabolic effects. When consumed in high amounts, fructose is linked with hypertriglyceridemia, fatty liver and insulin resistance. We present an unusual case of a patient with severe asymptomatic hypertriglyceridemia (triglycerides of 9182 mg/dL) and newly diagnosed type 2 diabetes mellitus, who reported a daily intake of 15 L of fruit juice over several weeks before presentation. The patient was referred to our emergency department with blood glucose of 527 mg/dL and glycated hemoglobin (HbA1c) of 17.3%. Interestingly, features of diabetic ketoacidosis or hyperosmolar hyperglycemic state were absent. The patient was overweight with an otherwise unremarkable physical exam. Lipase levels, liver function tests and inflammatory markers were closely monitored and remained unremarkable. The initial therapeutic approach included i.v. volume resuscitation, insulin and heparin. Additionally, plasmapheresis was performed to prevent potentially fatal complications of hypertriglyceridemia. The patient was counseled on balanced nutrition and detrimental effects of fruit beverages. He was discharged home 6 days after admission. At a 2-week follow-up visit, his triglyceride level was 419 mg/dL, total cholesterol was 221 mg/dL and HbA1c was 12.7%. The present case highlights the role of fructose overconsumption as a contributory factor for severe hypertriglyceridemia in a patient with newly diagnosed diabetes. We discuss metabolic effects of uncontrolled fructose ingestion, as well as the interplay of primary and secondary factors, in the pathogenesis of hypertriglyceridemia accompanied by diabetes.

Learning points

  • Excessive dietary fructose intake can exacerbate hypertriglyceridemia in patients with underlying type 2 diabetes mellitus (T2DM) and absence of diabetic ketoacidosis or hyperosmolar hyperglycemic state.

  • When consumed in large amounts, fructose is considered a highly lipogenic nutrient linked with postprandial hypertriglyceridemia and de novo hepatic lipogenesis (DNL).

  • Severe lipemia (triglyceride plasma level > 9000 mg/dL) could be asymptomatic and not necessarily complicated by acute pancreatitis, although lipase levels should be closely monitored.

  • Plasmapheresis is an effective adjunct treatment option for rapid lowering of high serum lipids, which is paramount to prevent acute complications of severe hypertriglyceridemia.

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Tina Kienitz Endocrinology in Charlottenburg, Stuttgarter Platz 1, Berlin, Germany

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Jörg Schwander Endocrinology in Charlottenburg, Stuttgarter Platz 1, Berlin, Germany

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Ulrich Bogner Endocrinology in Charlottenburg, Stuttgarter Platz 1, Berlin, Germany

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Michael Schwabe Pathology, DRK-Kliniken Westend, Berlin, Germany

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Thomas Steinmüller Department of Abdominal and Endocrine Surgery, DRK-Kliniken Westend, Berlin, Germany

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Marcus Quinkler Endocrinology in Charlottenburg, Stuttgarter Platz 1, Berlin, Germany

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Summary

Apart from adrenal myelolipomas, adrenal lipomatous tumors are rare and only seldom described in the literature. We present the case of a 50-year-old man, with a classical form of congenital adrenal hyperplasia (CAH), which was well treated with prednisolone and fludrocortisone. The patient presented with pollakisuria and shortness of breath while bending over. On MRI, fat-equivalent masses were found in the abdomen (14 × 19 × 11 cm on the right side and 10 × 11 × 6 cm on the left side). The right adrenal mass was resected during open laparotomy and the pathohistological examination revealed the diagnosis of an adrenal lipoma. Symptoms were subdued totally postoperatively. This is the first report of a bilateral adrenal lipoma in a patient with CAH that we are aware of.

Learning points:

  • Macronodular hyperplasia is common in patients with congenital adrenal hyperplasia (CAH).

  • Solitary adrenal tumors appear in approximately 10% of adult CAH patients and are often benign myelolipomas.

  • The Endocrine Society Clinical Practice Guideline does not recommend routine adrenal imaging in adult CAH patients.

  • Adrenal imaging should be performed in CAH patients with clinical signs for an adrenal or abdominal mass.

  • Adrenal lipoma is rare and histopathological examinations should rule out a differentiated liposarcoma.

Open access
Carmina Teresa Fuss Division of Endocrinology and Diabetology, Department of Medicine I, University Hospital Würzburg, Würzburg, Germany

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Stephanie Burger-Stritt Division of Endocrinology and Diabetology, Department of Medicine I, University Hospital Würzburg, Würzburg, Germany

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Silke Horn Division of Endocrinology and Diabetology, Department of Medicine I, University Hospital Würzburg, Würzburg, Germany

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Ann-Cathrin Koschker Division of Endocrinology and Diabetology, Department of Medicine I, University Hospital Würzburg, Würzburg, Germany

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Kathrin Frey Division of Endocrinology and Diabetology, Department of Medicine I, University Hospital Würzburg, Würzburg, Germany

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Almuth Meyer Division of Endocrinology and Diabetology, Department of Internal Medicine, Helios Klinikum Erfurt, Erfurt, Germany

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Stefanie Hahner Division of Endocrinology and Diabetology, Department of Medicine I, University Hospital Würzburg, Würzburg, Germany

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Summary

Standard treatment of hypoparathyroidism consists of supplementation of calcium and vitamin D analogues, which does not fully restore calcium homeostasis. In some patients, hypoparathyroidism is refractory to standard treatment with persistent low serum calcium levels and associated clinical complications. Here, we report on three patients (58-year-old male, 52-year-old female, and 48-year-old female) suffering from severe treatment-refractory postsurgical hypoparathyroidism. Two patients had persistent hypocalcemia despite oral treatment with up to 4 µg calcitriol and up to 4 g calcium per day necessitating additional i.v. administration of calcium gluconate 2–3 times per week, whereas the third patient presented with high frequencies of hypocalcemic and treatment-associated hypercalcemic episodes. S.c. administration of rhPTH (1–34) twice daily (40 µg/day) or rhPTH (1–84) (100 µg/day) only temporarily increased serum calcium levels but did not lead to long-term stabilization. In all three cases, treatment with rhPTH (1–34) as continuous s.c. infusion via insulin pump was initiated. Normalization of serum calcium and serum phosphate levels was observed within 1 week at daily 1–34 parathyroid hormone doses of 15 µg to 29.4 µg. Oral vitamin D and calcium treatment could be stopped or reduced and regular i.v. calcium administration was no more necessary. Ongoing efficacy of this treatment has been documented for up to 7 years so far. Therefore, we conclude that hypoparathyroidism that is refractory to both conventional treatment and s.c. parathyroid hormone (single or twice daily) may be successfully treated with continuous parathyroid hormone administration via insulin pump.

Learning points:

  • Standard treatment of hypoparathyroidism still consists of administration of calcium and active vitamin D.

  • Very few patients with hypoparathyroidism also do not respond sufficiently to standard treatment or administration of s.c. parathyroid hormone once or twice daily.

  • In those cases, continuous s.c. administration of parathyroid hormone via insulin pump may represent a successful treatment alternative.

Open access
Theresa Penger Divisions of Pediatric Endocrinology, Department of Pediatric and Adolescent Medicine, University Hospital of Erlangen, Erlangen, Germany

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Andrea Albrecht Divisions of Pediatric Endocrinology, Department of Pediatric and Adolescent Medicine, University Hospital of Erlangen, Erlangen, Germany

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Michaela Marx Divisions of Pediatric Endocrinology, Department of Pediatric and Adolescent Medicine, University Hospital of Erlangen, Erlangen, Germany

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Daniel Stachel Pediatric Hematology & Oncology, Department of Pediatric and Adolescent Medicine, University Hospital of Erlangen, Erlangen, Germany

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Markus Metzler Pediatric Hematology & Oncology, Department of Pediatric and Adolescent Medicine, University Hospital of Erlangen, Erlangen, Germany

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Helmuth G Dörr Divisions of Pediatric Endocrinology, Department of Pediatric and Adolescent Medicine, University Hospital of Erlangen, Erlangen, Germany

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Summary

We report on a boy of Albanian descent with the history of juvenile myelomonocytic leukemia (JMML). JMML was diagnosed at the age of 17 months and treated by hematopoietic stem cell transplantation (HSCT). At the age of 14.3 years, about 12 years after HSCT, he was hospitalized with an adrenal crisis. Hormone findings were consistent with primary adrenal insufficiency. Autoimmune adrenalitis was confirmed by positive autoantibodies against 21-hydroxylase and adrenal tissue. Since autoimmune Hashimoto thyroiditis was already known from the age of 9 years, we assume that both diseases are part of the spectrum of autoimmune polyglandular syndrome (APS) type 2. APS type 2 is a rare endocrine disease characterized by Addison’s disease along with autoimmune thyroid disease and/or type 1 diabetes.

Learning points:

  • Endocrine sequelae after hematopoietic stem cell transplantation (HSCT) are common and can develop over a long period.

  • Primary adrenal insufficiency after HSCT is absolutely rare.

  • The combination of adrenal autoimmune disease and Hashimoto thyroiditis is consistent with autoimmune polyglandular syndrome type 2.

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Judith Gerards Endocrinology in Charlottenburg

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Michael M Ritter Diabetology and Endocrinology, HELIOS Klinikum Berlin-Buch, Berlin, Germany

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Elke Kaminsky Praxis für Humangenetik

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Andreas Gal Bioglobe GmbH, Hamburg, Germany

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Wolfgang Hoeppner Bioglobe GmbH, Hamburg, Germany

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Marcus Quinkler Endocrinology in Charlottenburg

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Summary

DAX1 (NR0B1) is an orphan nuclear receptor, which plays an important role in development and function of the adrenal glands and gonads. Mutations in DAX1 cause X-linked adrenal hypoplasia congenita (X-linked AHC), which is characterized by adrenal insufficiency (AI) and hypogonadotropic hypogonadism (HHG). Affected boys present with adrenal failure usually in childhood and, later in life, with delayed puberty. However, patients with a late-onset form of X-linked AHC have also been described in the past years. We report a male patient who presented with symptoms of an adrenal crisis at the age of 38 years and was later diagnosed with HHG. Family history was positive with several male relatives diagnosed with AI and compatible with the assumed X-chromosomal inheritance of the trait. Direct sequencing of DAX1 of the patient revealed a hemizygous cytosine-to-thymine substitution at nucleotide 64 in exon 1, which creates a novel nonsense mutation (p.(Gln22*)). In order to compare the clinical presentation of the patient to that of other patients with X-linked AHC, we searched the electronic database MEDLINE (PubMed) and found reports of nine other cases with delayed onset of X-linked AHC. In certain cases, genotype–phenotype correlation could be assumed.

Learning points:

  • X-linked AHC is a rare disease characterized by primary AI and hypogonadotropic hypogonadism (HHG). The full-blown clinical picture is seen usually only in males with a typical onset in childhood.

  • Patients with a late-onset form of X-linked AHC have also been described recently. Being aware of this late-onset form might help to reach an early diagnosis and prevent life-threatening adrenal crises.

  • Adult men with primary AI of unknown etiology should be investigated for HHG. Detecting a DAX1 mutation may confirm the clinical diagnosis of late-onset X-linked AHC.

  • In relatives of patients with genetically confirmed X-linked AHC, targeted mutation analysis may help to identify family members at risk and asymptomatic carriers, and discuss conscious family planning.

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Ahmad Haider Private Urology Practice, Bremerhaven, Germany

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Karim S Haider Private Urology Practice, Bremerhaven, Germany

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Farid Saad Global Medical Affairs Andrology, Bayer AG, Berlin, Germany
Research Department, Gulf Medical University, Ajman, UAE

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Summary

In daily practice, clinicians are often confronted with obese type 2 diabetes mellitus (T2DM) patients for whom the treatment plan fails and who show an inadequate glycemic control and/or no sustainable weight loss. Untreated hypogonadism can be the reason for such treatment failure. This case describes the profound impact testosterone therapy can have on a male hypogonadal patient with metabolic syndrome, resulting in a substantial and sustained loss of body weight, pronounced improvement of all critical laboratory values and finally complete remission of diabetes.

Learning points:

  • Hypogonadism occurs frequently in men with T2DM.

  • In case of pronounced abdominal fat deposition and T2DM, the male patient should be evaluated for testosterone deficiency.

  • Untreated hypogonadism can complicate the successful treatment of patients with T2DM.

  • Under testosterone therapy, critical laboratory values are facilitated to return back to normal ranges and even complete remission of diabetes can be achieved.

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

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Ulf Elbelt Department of Endocrinology and Metabolic Diseases, Charité – Universitätsmedizin, Charitéplatz 1, Berlin, 10117, Germany

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Manfred Ventz Department of Endocrinology and Metabolic Diseases, Charité – Universitätsmedizin, Charitéplatz 1, Berlin, 10117, Germany

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Knut Mai Department of Endocrinology and Metabolic Diseases, Charité – Universitätsmedizin, Charitéplatz 1, Berlin, 10117, Germany

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Tina Kienitz Department of Endocrinology and Metabolic Diseases, Charité – Universitätsmedizin, Charitéplatz 1, Berlin, 10117, Germany

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Lukas Maurer Department of Endocrinology and Metabolic Diseases, Charité – Universitätsmedizin, Charitéplatz 1, Berlin, 10117, Germany

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Thomas Rose Division of Rheumatology and Clinical Immunology, Medical Department, Charité – Universitätsmedizin, Charitéplatz 1, Berlin, 10117, Germany

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Jens C Rückert Department of General Visceral Vascular and Thoracic Surgery, Charité – Universitätsmedizin, Charitéplatz 1, Berlin, 10117, Germany

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Christian J Strasburger Department of Endocrinology and Metabolic Diseases, Charité – Universitätsmedizin, Charitéplatz 1, Berlin, 10117, Germany

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Joachim Spranger Department of Endocrinology and Metabolic Diseases, Charité – Universitätsmedizin, Charitéplatz 1, Berlin, 10117, Germany

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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
Hanna Remde
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Elke Kaminsky Laboratory for Molecular Genetics, Hamburg, Germany

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Mathias Werner Institute of Pathology, HELIOS Klinikum Emil von Behring, Stiftung Oskar-Helene-Heim, Berlin, Germany

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Marcus Quinkler Endocrinology in Charlottenburg, Stuttgarter Platz 1, Berlin, D 10627, Germany

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Summary

We report of a male patient aged 32 years who presented with primary hyperparathyroidism. Three parathyroid glands were resected. At the age of 46 years, nervus facialis irritation was noted, and an MRI scan incidentally revealed a non-functioning pituitary adenoma with affection of the chiasma opticum. The patient underwent transsphenoidal operation resulting in pituitary insufficiency postoperatively. At the same time, primary hyperparathyroidism reoccurred and a parathyroid adenoma located at the thymus was resected. The mother of the patient died early due to multiple tumors. The patient was suspected to have multiple endocrine neoplasia type 1 (MEN1) and genetic analysis was performed. In addition, on clinical examination, multiple exostoses were noticed and an additional genetic analysis was performed. His father was reported to have multiple osteochondromas too. MEN1 was diagnosed in the patient showing a novel heterozygote mutation c.2T>A in exon 2, codon 1 (start codon ATG>AAG;p.Met1?) of the MEN1 gene. In genetic mutational analysis of the EXT1 gene, another not yet known mutation c.1418-2A>C was found in intron 5 of the EXT1 gene (heterozygotic). In conclusion, we report novel mutations of the EXT1 and the MEN1 genes causing hereditary multiple osteochondromas and MEN1 in one patient.

Learning points

  • It is important to ask for the patient's family history in detail.

  • Patients with MEN1 are characterized by the occurrence of tumors in multiple endocrine tissues and nonendocrine tissues, most frequently parathyroid (95%), enteropancreatic neuroendocrine (50%), and anterior pituitary (40%) tissues.

  • Familiar MEN1 has a high degree of penetrance (80–95%) by the age over 50; however, combinations of the tumors may be different in members of the same family.

  • Patients with EXT1 gene mutations should be monitored for possible transformation of bone lesions into osteochondrosarcoma.

Open access