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Case Rep Endocrinol 2021 19;2021:5525156. Epub 2021 May 19.

Department of Neurology, Sutherland Hospital, Sydney, NSW, Australia.

Autoimmune hypothyroidism may result in a wide range of neuromuscular disorders. The frequently observed neurological manifestations of acquired hypothyroidism include mild to moderate myopathy and sensorimotor neuropathy, which usually resolve by clinical and electrophysiological criteria, in adults treated with thyroid hormone replacement. We report a case of a 30-year-old male with severe hypothyroidism secondary to chronic autoimmune thyroiditis who presented with a 2-year history of progressive fatigue, upper and lower limb weakness, myalgia, and intermittent paraesthesia. Read More

Nephron 2021 May 31:1-6. Epub 2021 May 31.

Department of Pediatric Nephrology, Medical University of Lublin, Lublin, Poland.

Pierson syndrome (PIERSS) is a rare autosomal recessive disorder characterized by the combination of congenital nephrotic syndrome (CNS) and extrarenal symptoms including ocular malformations and neurodevelopmental deficits. PIERSS is caused by biallelic pathogenic variants in the LAMB2 gene leading to the defects of β2-laminin, the protein mainly expressed in the glomerular basement membrane, ocular structures, and neuromuscular junctions. Severe complications of PIERSS lead to the fatal outcome in early childhood in majority of the cases. Read More

BMJ Case Rep 2021 May 4;14(5). Epub 2021 May 4.

Department of Endocrinology, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India.

We present a case of a 25-year-old man who came to our Endocrine Clinic for evaluation of short stature. He had a history of sensorineural hearing loss, hypertrichosis and hyperpigmentation with the thickening of the skin below the hip, gynecomastia and autoimmune haemolytic anaemia. Investigations showed that he had hypergonadotropic hypogonadism. Read More

Pract Neurol 2021 Mar 30. Epub 2021 Mar 30.

Department of Neurology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

Myoedema is an under-recognised neurological sign that can help the bedside diagnosis of metabolic or endocrine myopathies. Myoedema together with pseudo-hypertrophy make a likely diagnosis of hypothyroid myopathy, and its identification may avoid unnecessary investigations. Read More

Glob Health Med 2021 Feb;3(1):15-23

Department of Laboratory Medicine, The Jikei University Kashiwa Hospital, Chiba, Japan.

Dyslipidemia is classified into primary and secondary types. Primary dyslipidemia is basically inherited and caused by single or multiple gene mutations that result in either overproduction or defective clearance of triglycerides and cholesterol. Secondary dyslipidemia is caused by unhealthy lifestyle factors and acquired medical conditions, including underlying diseases and applied drugs. Read More

Acta Myol 2020 Sep 1;39(3):130-135. Epub 2020 Sep 1.

Department of Clinical and Experimental Medicine, University of Messina, Italy.

Endocrinopathies, such as thyroid and parathyroid diseases, disorders of the adrenal axis, and acromegaly are included among the many causes of myopathy. Muscle disturbances caused by endocrine disorders are mainly due to alterations in the protein and carbohydrate metabolisms. Either a deficiency or excess of hormones produced by the glands can cause muscle dysfunction that can be reversed by starting hormone replacement therapy or acting on hormone dysfunction. Read More

Med Clin North Am 2021 Jan;105(1):137-148

Internal Medicine Department, Eastern Virginia Medical School, 825 Fairfax Avenue, Suite 572, Norfolk, VA 23507, USA.

Owing to the broad differential diagnoses that can present as fatigue, a rational approach to diagnosis is paramount. Performance of a battery of diagnostic tests is unlikely to assist with diagnosis, highlighting the importance of a thorough history and physical examination. Fatigue can be a sequela of an underlying medical disease or exists as a primary condition. Read More

Orphanet J Rare Dis 2020 11 24;15(1):330. Epub 2020 Nov 24.

Copenhagen Neuromuscular Center, Section 6921, Rigshospitalet, University of Copenhagen, 2100, Copenhagen, Denmark.

Background: The European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC) was launched to register rare muscle glycogenoses in Europe, to facilitate recruitment for research trials and to learn about the phenotypes and disseminate knowledge about the diseases through workshops and websites. A network of twenty full and collaborating partners from eight European countries and the US contributed data on rare muscle glycogenosis in the EUROMAC registry. After approximately 3 years of data collection, the data in the registry was analysed. Read More

Acta Vet Hung 2020 10 13;68(2):147-153. Epub 2020 Oct 13.

4Department of Surgery and Diagnostic Imaging, Faculty of Veterinary Medicine, Urmia University, Urmia, Islamic Republic of Iran.

An 11-year-old Hanoverian gelding used for jumping was evaluated for gait abnormalities and hoof problems in the hindlimbs. Clinical examinations revealed signs consistent with shivers. A thyroid gland enlargement was noticed, baseline serum thyroid hormone (TH) concentrations were low, and a low response to thyrotropin-releasing hormone administration was observed. Read More

Women Health 2021 Feb 11;61(2):160-170. Epub 2020 Oct 11.

School of Health Promotion and Kinesiology, Texas Woman's University , Denton, TX, USA.

This study examined the effect of exercise on skeletal muscle symptoms experienced by women with hypothyroidism. An online survey on exercise participation was completed by female participants undergoing treatment for hypothyroidism ( = 580). Basal muscle symptoms (MS) and exercise muscle symptoms were analyzed by the type of exercise performed, cardiovascular/aerobic (CV), resistance training (RT), or both (CVRT). Read More

Ann Palliat Med 2020 Sep 10;9(5):3698-3704. Epub 2020 Sep 10.

Department of Chinese Medicine, Guangdong Second Provincial General Hospital, Guangzhou, China.

Hypothyroid myopathy is a skeletal muscle disease caused by hypothyroidism. However, patients with hypothyroidism are often misdiagnosed as polymyositis if they do not have a clear history of thyroid gland or obvious hypometabolic symptoms, but with myasthenia and myalgia as the main symptoms or the first symptoms. Moreover, hypothyroid myopathy with periodic paralysis as the first symptom is rare in clinic. Read More

Cureus 2020 Jun 15;12(6):e8629. Epub 2020 Jun 15.

Internal Medicine/Pediatrics, Western Michigan University Homer Stryker M.D. School of Medicine, Kalamazoo, USA.

A 78-year-old woman with a past medical history of hypothyroidism and Sjogren's syndrome presented with a two-month history of gradually progressive bilateral lower extremity weakness. Significant elevation in thyroid-stimulating hormone (TSH) and muscle enzyme, such as creatine kinase, was noticed on presentation. Due to concerns of hypothyroid myopathy, the patient was started on thyroxine and triiodothyronine supplementation. Read More

Saudi Med J 2020 Jul;41(7):703-708

Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia. E-mail.

Objectives: To determine the incidence of newborn screening (NBS) disorders and to study the key performance indicators of the program.

Methods: This retrospective single-center study enrolled all infants who underwent NBS from January 2012 to December 2017 at Prince Sultan Military Medical City, Riyadh, Saudi Arabia. We screened 17 NBS disorders. Read More

Lancet Diabetes Endocrinol 2020 07;8(7):594-605

Department of Diabetes and Endocrinology, Women's and Children's Hospital, North Adelaide, SA, Australia.

Background: Disordered thyroid hormone transport, due to mutations in the SLC16A2 gene encoding monocarboxylate transporter 8 (MCT8), is characterised by intellectual and motor disability resulting from cerebral hypothyroidism and chronic peripheral thyrotoxicosis. We sought to systematically assess the phenotypic characteristics and natural history of patients with MCT8 deficiency.

Methods: We did an international, multicentre, cohort study, analysing retrospective data from Jan 1, 2003, to Dec 31, 2019, from patients with MCT8 deficiency followed up in 47 hospitals in 22 countries globally. Read More

BMC Endocr Disord 2020 Jun 5;20(1):80. Epub 2020 Jun 5.

Department of Orthopedic and Trauma Surgery, Luzerner Kantonsspital Luzern, P.O. Box, Spitalstrasse, 6000, Lucerne, Switzerland.

Background: Acute compartment syndrome is a rare complication of severe hypothyroidism. If the symptoms are not recognized promptly and treatment initiated immediately, there is a high risk of permanent damage. Only few other cases of compartment syndrome due to hypothyroidism have been published and the exact pathophysiological mechanism remains unknown. Read More

Rheumatology (Oxford) 2020 Dec;59(12):3853-3857

Muscle Research Unit, Internal Medicine Department, Hospital Clínic de Barcelona, Universidad de Barcelona and Center for Biomedical Research on Rare Diseases (CIBERER), Barcelona, Madrid.

Objectives: Statins are the cornerstone of the treatment and prevention of cardiovascular disease but have been associated with muscular side effects, among others. If patients are not properly evaluated, statin discontinuation may take place, leaving patients' symptoms unresolved and precluding an effective cardiovascular treatment. The present study aims to describe the clinical characteristics, the diagnostic process and the final diagnosis of selected patients with suspected statin-induced myopathy, with quite different alternative diagnoses. Read More

Am J Case Rep 2020 May 20;21:e924347. Epub 2020 May 20.

Department of Internal Medicine, University of Pittsburgh Medical Center Pinnacle, Harrisburg, PA, USA.

BACKGROUND Elevation of creatine kinase (CK) activity has been shown to be predictive of acute kidney injury (AKI) in rhabdomyolysis. Patients with extremely high CK activity with preserved renal function are uncommon. This report describes a case of non-traumatic rhabdomyolysis, with a markedly elevated CK activity, without associated AKI. Read More

Am J Kidney Dis 2020 08 15;76(2):299-302. Epub 2020 May 15.

Division of Nephrology, Department of Medicine, Massachusetts General Hospital, Boston, MA. Electronic address:

J Clin Rheumatol 2020 Apr 25. Epub 2020 Apr 25.

Laboratory of Anatomy, Department of Basic Veterinary Sciences, Faculty of Veterinary Medicine, Hokkaido University, Sapporo, Japan.

Trop Doct 2020 Jul 21;50(3):273-274. Epub 2020 Apr 21.

Senior Professor, Department of Nephrology, Sri Venkateswara Institute of Medical Sciences, Tirupati, India.

Rhabdomyolysis may develop due to hypothyroidism alone without any precipitating factors, but such reports are rare. We report as such the first manifestation of hypothyroidism. Read More

Drug Saf 2020 08;43(8):767-774

Team Pharmacoepidemiology, Bordeaux Population Health Research Center, Inserm U1219, Univ. Bordeaux, 33000, Bordeaux, France.

Introduction: After a safety warning was issued for a risk of muscular injury associated with dipeptidyl peptidase-4 (DPP-4) inhibitor use, especially when co-prescribed with statins, spontaneous reporting analyses provided conflicting results.

Objective: The aim of this study was to investigate the association between DPP-4 inhibitor use and the risk of muscular injury in individuals with type 2 diabetes mellitus using statins or fibrates.

Methods: We conducted a nested case-control study amongst a cohort of individuals with type 2 diabetes using statins or fibrates, identified from a nationwide French health insurance database (2009-2014). Read More

Clin Biochem 2020 Jun 19;80:52-55. Epub 2020 Mar 19.

University Hospital of Reims, Biochemistry Department, Reims, France.

The metabolism of homocysteine is complex and involves many enzymes as well as vitamin-derived cofactors. Any dysregulation of this metabolism may lead to hyperhomocysteinemia (HHCy) which is responsible for many clinical disorders including thromboembolic events. HHCy may result from very different etiologies and is generally classified into three groups according to homocysteine concentrations: moderate (<30 µmol/L), intermediate (30-100 µmol/L) or major (>100 μmol/L). Read More

J Endocrinol Invest 2020 Jul 12;43(7):885-899. Epub 2020 Mar 12.

Endocrine Unit, Department of Medicine and Surgery, Ospedale Di Circolo, ASST Dei Sette Laghi, University of Insubria, Viale Borri, 57, Varese, Italy.

A complex relationship exists between thyroid and liver in health and disease. Liver plays an essential physiological role in thyroid hormone activation and inactivation, transport, and metabolism. Conversely, thyroid hormones affect activities of hepatocytes and hepatic metabolism. Read More

N Z Med J 2020 03 13;133(1511):86-89. Epub 2020 Mar 13.

Department of Orthopaedic Surgery, Middlemore Hospital, Counties Manukau District Health Board, Auckland.

J Med Case Rep 2020 Mar 2;14(1):38. Epub 2020 Mar 2.

Department of Urology and Endocrine Surgery, University Hospital of North Norway, Tromsø, Norway.

Background: Hoffmann's syndrome is a rare form of hypothyroid myopathy. Only a few cases of fasciotomy in this setting have previously been reported.

Case Presentation: A 41-year-old Caucasian man under treatment for hypothyroidism presented with acute-onset severe pain in his forearm for no obvious reason and was admitted to our emergency room. Read More

Eur J Cancer 2020 03 5;128:57-59. Epub 2020 Mar 5.

Department of Pulmonary and Critical Care Medicine, Peking Union Medical Hospital, Chinese Academy of Medical Science & Peking Union Medical College, Beijing, China. Electronic address:

Eur J Hum Genet 2020 08 18;28(8):1044-1055. Epub 2020 Feb 18.

Unité de Génétique Chromosomique ou Cytogénétique, Centre Hospitalier Universitaire de Nantes, Nantes, France.

Primrose syndrome is characterized by variable intellectual deficiency, behavior disorders, facial features with macrocephaly, and a progressive phenotype with hearing loss and ectopic calcifications, distal muscle wasting, and contractures. In 2014, ZBTB20 variants were identified as responsible for this syndrome. Indeed, ZBTB20 plays an important role in cognition, memory, learning processes, and has a transcription repressive effect on numerous genes. Read More

Endocrinol Diabetes Metab Case Rep 2020 Feb 7;2020. Epub 2020 Feb 7.

Department of Medicine and College of Medicine, King Saud University, Riyadh, Saudi Arabia.

Summary: Central diabetes insipidus (CDI) and several endocrine disorders previously classified as idiopathic are now considered to be of an autoimmune etiology. Dermatomyositis (DM), a rare autoimmune condition characterized by inflammatory myopathy and skin rashes, is also known to affect the gastrointestinal, pulmonary, and rarely the cardiac systems and the joints. The association of CDI and DM is extremely rare. Read More

Pediatr Nephrol 2021 02 3;36(2):223-236. Epub 2020 Feb 3.

Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.

While nephropathic cystinosis is classically thought of as a childhood disease, with improved treatments, patients are more commonly living into adulthood. We performed a systematic review of the literature available on what complications this population faces as it ages. Nearly every organ system is affected in cystinosis, either from the disease itself or from sequelae of kidney transplantation. Read More