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.

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.

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.

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.

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.

Urinary 5-HIAA excretion is not increased in patients with head and neck paragangliomas.

Background: Case reports have documented carcinoid-like features in head and neck paragangliomas (HNPGLs), which, in addition to catecholamine storing granules, may also contain granules with serotonin. Serotonin is metabolized to 5-hydroxyindoleacetic acid (5-HIAA). 


Aim: To assess the urinary excretion rates of 5-HIAA and catecholamines in HNPGL patients.

Primary hyperparathyroidism in MEN1 patients: a cohort study with longterm follow-up on preferred surgical procedure and the relation with genotype.

Objective: To identify the optimal surgical strategy for multiple endocrine neoplasia type 1 (MEN1)-related primary hyperparathyroidism (pHPT). To describe the course of postoperative hypoparathyroidism and to assess whether genotype is associated with persistent/recurrent pHPT.

Background: Surgery is the preferred treatment in MEN1-related pHPT, but the surgical procedure of choice is still uncertain.

TSH-CHECK-1 test: diagnostic accuracy and potential application to initiating treatment for hypothyroidism in patients on anti-tuberculosis drugs.

Background: Thyroid-stimulating hormone (TSH) promotes expression of thyroid hormones which are essential for metabolism, growth, and development. Second-line drugs to treat tuberculosis (TB) can cause hypothyroidism by suppressing thyroid hormone synthesis. Therefore, TSH levels are routinely measured in TB patients receiving second-line drugs, and thyroxin treatment is initiated where indicated.