Fetal Thyrotoxicosis due to Maternal TSH Receptor Stimulating Antibodies Causes Infant Central Hypothyroidism.

Introduction: Women with a current diagnosis or past history of Graves' disease (GD) are at risk of developing fetal thyrotoxicosis (FT) during pregnancy when they are inadequately treated, or because of placental passage of TSH receptor antibodies (TRAb). It is known that FT induced by high maternal thyroid hormone concentrations may result in infant (central) hypothyroidism.

Case Presentation: In a euthyroid woman with a history of GD treated with radioactive iodide (I131), persistently high levels of maternal TRAb resulted in recurrent FT during two separate pregnancies, followed by neonatal hyperthyroidism and infant central hypothyroidism.

European Society of Endocrinology Clinical Practice Guideline: Endocrine work-up in obesity.

Obesity is an emerging condition, with a prevalence of ~20%. Although the simple measurement of BMI is likely a simplistic approach to obesity, BMI is easily calculated, and there are currently no data showing that more sophisticated methods are more useful to guide the endocrine work-up in obesity. An increased BMI leads to a number of hormonal changes.

Prevalence of endocrine disorders in obese patients: systematic review and meta-analysis.

Objective: The increasing prevalence of obesity is expected to promote the demand for endocrine testing. To facilitate evidence guided testing, we aimed to assess the prevalence of endocrine disorders in patients with obesity. The review was carried out as part of the Endocrine Work-up for the Obesity Guideline of the European Society of Endocrinology.

Variant type is associated with disease characteristics in SDHB, SDHC and SDHD-linked phaeochromocytoma-paraganglioma.

Background: Pathogenic germline variants in subunits of succinate dehydrogenase (, and ) are broadly associated with disease subtypes of phaeochromocytoma-paraganglioma (PPGL) syndrome. Our objective was to investigate the role of variant type (ie, missense vs truncating) in determining tumour phenotype.

Methods: Three independent datasets comprising 950 PPGL and head and neck paraganglioma (HNPGL) patients were analysed for associations of variant type with tumour type and age-related tumour risk.

Increased Mortality in but Not in Pathogenic Variant Carriers.

Germline mutations in succinate dehydrogenase subunit B and D ( and ) are predisposed to hereditary paraganglioma (PGL) and pheochromocytoma (PHEO). The phenotype of pathogenic variants varies according to the causative gene. In this retrospective study, we estimate the mortality of a nationwide cohort of variant carriers and that of a large cohort of variant carriers and compare it to the mortality of a matched cohort of the general Dutch population.

Appendicitis Presenting As Cellulitis of the Right Leg.

Background: Several infectious processes of intra-abdominal origin may atypically present as skin or soft tissue infections or abscess in the thigh.

Case Report: We describe the case of a 73-year-old woman who presented to the emergency department with the clinical picture of a skin infection of the right leg. The patient's condition deteriorated during medical treatment with intravenous antibiotics.

What is the role of general internists in the tertiary or academic setting?

The changing demography of European populations mandates a vital role for internists in caring for patients in each level of healthcare. Internists in the tertiary or academic setting are highly ranked in terms of their responsibilities: they are clinicians, educators, researchers, role models, mentors and administrators. Contrary to the highly focused approach of sub-specialties, general internists working in academic settings can ensure that coordinated care is delivered in the most cost-conscious and efficient way.

Phenotype of SDHB mutation carriers in the Netherlands.

SDHB mutation carriers are predisposed to developing paragangliomas (PGLs). The objective of this study was to assess genotype-phenotype correlations of a Dutch cohort of SDHB mutation carriers and assess potential differences in clinical phenotypes related to specific SDHB founder mutations. Forty-seven consecutive SDHB mutation carriers were included.

Chemotherapy with cyclophosphamide, vincristine and dacarbazine for malignant paraganglioma and pheochromocytoma: systematic review and meta-analysis.

Background: Chemotherapy with cyclophosphamide, vincristine and dacarbazine (CVD) can be used for palliative treatment of malignant pheochromocytoma and paraganglioma. However, the precise effect of this chemotherapeutic regimen on tumour volume is unclear. The main objective of this study was to perform a systematic review and meta-analysis assessing the effect of chemotherapy with CVD on tumour volume in patients with malignant paraganglioma/pheochromocytoma.

(131)I-MIBG therapy for malignant paraganglioma and phaeochromocytoma: systematic review and meta-analysis.

Background: (131)I-MIBG therapy can be used for palliative treatment of malignant paraganglioma and phaeochromocytoma. The main objective of this study was to perform a systematic review and meta-analysis assessing the effect of (131)I-MIBG therapy on tumour volume in patients with malignant paraganglioma/phaeochromocytoma.

Methods: A literature search was performed in December 2012 to identify potentially relevant studies.

Illness perceptions, risk perception and worry in SDH mutation carriers.

Succinate dehydrogenase (SDH) mutation carriers are predisposed for developing paragangliomas. This study aimed to explore illness perceptions, risk perception and disease-related worry in these individuals. All consecutive SDHB and SDHD mutation carriers followed at the Department of Endocrinology of the Leiden University Medical Center (LUMC), a tertiary referral center, were eligible for inclusion.

Avoiding and nonexpressing: coping styles of patients with paragangliomas.

Context: Paraganglioma (PGL) patients and succinate dehydrogenase (SDH) gene mutation carriers at risk for PGLs have a decreased quality of life (QoL). QoL may be affected by the strategy an individual uses when dealing with a stressful situation, ie, specific coping styles. Understanding the various approaches to coping may allow the development of targeted interventions to improve patient QoL.

Carotid body tumors are not associated with an increased risk for sleep-disordered breathing.

Purpose: Tumors in the carotid bodies may interfere with their function as peripheral chemoreceptors. An altered control of ventilation may predispose to sleep-disordered breathing. This study aimed to assess whether patients with unilateral or bilateral carotid body tumors (uCBT or bCBT, respectively) or bilateral CBT resection (bCBR) display sleep-disordered breathing and to evaluate the global contribution of the peripheral chemoreceptor to the hypercapnic ventilatory response.

Effects of octreotide therapy in progressive head and neck paragangliomas: case series.

Background: Octreotide, a somatostatin analog, may be beneficial in the treatment of head and neck paragangliomas (HNPGLs).

Methods: We conducted a nonblinded, prospective intervention study. During 1 year, patients received a monthly intramuscular injection of 30 mg octreotide.

No difference in phenotype of the main Dutch SDHD founder mutations.

Objective: SDHD mutations predispose carriers to hereditary paraganglioma syndrome. The objective of this study was to assess the genotype-phenotype correlation of a large Dutch cohort of SDHD mutation carriers and evaluate potential differences in clinical phenotypes due to specific SDHD gene mutations.

Design: Retrospective, descriptive single-centre study.

Quality of life is decreased in patients with paragangliomas.

Context: Germline mutations in succinate dehydrogenase (SDH) genes predispose carriers for developing paragangliomas, and studies on their quality of life (QoL) are scarce.

Objectives: The objectives of this study were to assess QoL in patients with paragangliomas (PGL), to evaluate long-term QoL, and to explore potential differences in QoL between SDH mutation carriers and paraganglioma patients without an SDH mutation.

Design: Cross-sectional, case-control study.

Regression and local control rates after radiotherapy for jugulotympanic paragangliomas: systematic review and meta-analysis.

The primary treatment goal of radiotherapy for paragangliomas of the head and neck region (HNPGLs) is local control of the tumor, i.e. stabilization of tumor volume.

Risk of malignant paraganglioma in SDHB-mutation and SDHD-mutation carriers: a systematic review and meta-analysis.

The main objective of this study was to perform a systematic review and meta-analysis on the risk of developing malignant paraganglioma (PGL) in SDHB-mutation and SDHD-mutation carriers. PubMed, EMBASE, Web of Science, COCHRANE and Academic Search Premier (2000-August 2011) and references of key articles were searched to identify potentially relevant studies. The main outcomes were the pooled incidence and prevalence of malignant PGL in SDHB-mutation and SDHD-mutation carriers.

Is there a role for radioguided surgery with iodine-labeled metaiodobenzylguanidine in resection of neuroendocrine tumors?

Purpose: The aim of this study was to systematically review literature, exploring the role of radioguided surgery with iodine-labeled metaiodobenzylguanidine (MIBG) in resection of neuroendocrine tumors.

Methods: PubMed, EMBASE, Web of Science, COCHRANE, CINAHL, Academic Search Premier, ScienceDirect, Wiley, and references of key articles were searched to identify potentially relevant studies.

Results: Twenty studies were included.

Intraoperative detection of ganglioneuromas with 123I-MIBG.

Radioactive MIBG can be used in radioguided surgery for neuroendocrine tumors. We report the case of a man with a mutation in the succinate dehydrogenase subunit B (SDHB) gene, in which an abdominal MRI scan identified two 5-mm left para-aortic nodules, suspect for paragangliomas. Subsequent SPECT revealed increased uptake of tracer.