Pick Topic
Review Topic
List Experts
Examine Expert
Save Expert
  Site Guide ··   
Addison Disease HELP
Based on 665 articles published since 2007

These are the 665 published articles about Addison Disease that originated from Worldwide during 2007-2017.
+ Citations + Abstracts
Pages: 1 · 2 · 3 · 4 · 5 · 6 · 7 · 8 · 9 · 10 · 11 · 12 · 13 · 14 · 15 · 16 · 17 · 18 · 19 · 20
1 Guideline Consensus statement on the diagnosis, treatment and follow-up of patients with primary adrenal insufficiency. 2014

Husebye, E S / Allolio, B / Arlt, W / Badenhoop, K / Bensing, S / Betterle, C / Falorni, A / Gan, E H / Hulting, A-L / Kasperlik-Zaluska, A / Kämpe, O / Løvås, K / Meyer, G / Pearce, S H. ·Department of Clinical Science, University of Bergen, Bergen, Norway; Department of Medicine, Haukeland University Hospital, Bergen, Norway. · ·J Intern Med · Pubmed #24330030.

ABSTRACT: Primary adrenal insufficiency (PAI), or Addison's disease, is a rare, potentially deadly, but treatable disease. Most cases of PAI are caused by autoimmune destruction of the adrenal cortex. Consequently, patients with PAI are at higher risk of developing other autoimmune diseases. The diagnosis of PAI is often delayed by many months, and most patients present with symptoms of acute adrenal insufficiency. Because PAI is rare, even medical specialists in this therapeutic area rarely manage more than a few patients. Currently, the procedures for diagnosis, treatment and follow-up of this rare disease vary greatly within Europe. The common autoimmune form of PAI is characterized by the presence of 21-hydroxylase autoantibodies; other causes should be sought if no autoantibodies are detected. Acute adrenal crisis is a life-threatening condition that requires immediate treatment. Standard replacement therapy consists of multiple daily doses of hydrocortisone or cortisone acetate combined with fludrocortisone. Annual follow-up by an endocrinologist is recommended with the focus on optimization of replacement therapy and detection of new autoimmune diseases. Patient education to enable self-adjustment of dosages of replacement therapy and crisis prevention is particularly important in this disease. The authors of this document have collaborated within an EU project (Euadrenal) to study the pathogenesis, describe the natural course and improve the treatment for Addison's disease. Based on a synthesis of this research, the available literature, and the views and experiences of the consortium's investigators and key experts, we now attempt to provide a European Expert Consensus Statement for diagnosis, treatment and follow-up.

2 Editorial How best to treat Addison's disease in dogs? 2016

Carr, Anthony P. ·Department of Small Animal Clinical Sciences, Western College of Veterinary Medicine, University of Saskatchewan, Saskatoon S7N 5B4, Canada, e-mail: tony.carr@usask.ca. ·Vet Rec · Pubmed #27450847.

ABSTRACT: -- No abstract --

3 Editorial Adrenal insufficiency with special reference to tuberculosis. 2014

Parameswaran, V. · ·Indian J Tuberc · Pubmed #25509930.

ABSTRACT: -- No abstract --

4 Editorial Clinicians sometimes miss cases of latent primary adrenal insufficiency involving stress-related health changes. 2014

Nishikawa, Tetsuo / Omura, Masao / Saito, Jun / Matsuzawa, Yoko. ·Endocrinology & Diabetes Center, Yokohama Rosai Hospital, Japan. · ·Intern Med · Pubmed #24492682.

ABSTRACT: -- No abstract --

5 Editorial How to avoid precipitating an acute adrenal crisis. 2012

Wass, John A H / Arlt, Wiebke. · ·BMJ · Pubmed #23048013.

ABSTRACT: -- No abstract --

6 Editorial Compounding risk for hypoglycemia: type 1 diabetes and Addison's disease. 2012

Barker, Jennifer M. · ·Diabetes Technol Ther · Pubmed #22506859.

ABSTRACT: -- No abstract --

7 Editorial [Full-blown diseases]. 2009

Scriba, P C. · ·Dtsch Med Wochenschr · Pubmed #19746327.

ABSTRACT: -- No abstract --

8 Editorial Glucocorticoid replacement therapy in patients with Addison's disease. 2007

Kyriazopoulou, Venetsana. · ·Expert Opin Pharmacother · Pubmed #17425469.

ABSTRACT: One hundred and fifty years ago, Thomas Addison published his classic paper on the 'Constitutional and Local Effects of Disease of the Supra-renal Capsules', in which he described 11 patients with the disorder that would come to bear his name. Adrenal insufficiency is a rare disease, but its prevalence is increasing. The most frequent causes of adrenal insufficiency in western countries are autoimmune adrenalitis, but other causes include, tuberculosis systemic fungal infections, AIDS, metastatic carcinoma and isolated glucocorticoid deficiency. It is clear that autoimmunity precedes overt Addison's disease by years, as in many autoimmune endocrine disorders. Adrenocortical function is lost over a period of years as it progresses to overt Addison's disease. This editorial discusses the controversial glucocorticoid replacement therapy in patients with Addison's disease, and aims to provide a good review of literature and suggested guidelines for appropriate treatment of this disease.

9 Review None 2017

Yalcin, Tülay / Schneemann, Markus / Schmid, Beat. ·1 Klinik für Innere Medizin, Kantonsspital Schaffhausen. · 2 Endokrinologie, Klinik für Innere Medizin, Kantonsspital Schaffhausen. ·Praxis (Bern 1994) · Pubmed #28795626.

ABSTRACT: -- No abstract --

10 Review MECHANISMS IN ENDOCRINOLOGY: Update on pathogenesis of primary adrenal insufficiency: beyond steroid enzyme deficiency and autoimmune adrenal destruction. 2017

Flück, Christa E. ·Departments of Pediatrics and Clinical ResearchBern University Children's Hospital Inselspital, University of Bern, Bern, Switzerland christa.flueck@dkf.unibe.ch. ·Eur J Endocrinol · Pubmed #28450305.

ABSTRACT: Primary adrenal insufficiency (PAI) is potentially life threatening, but rare. In children, genetic defects prevail whereas adults suffer more often from acquired forms of PAI. The spectrum of genetic defects has increased in recent years with the use of next-generation sequencing methods and now has reached far beyond genetic defects in all known enzymes of adrenal steroidogenesis. Cofactor disorders such as P450 oxidoreductase (

11 Review Radiology of the adrenal incidentalomas. Review of the literature. 2017

Farrugia, F A / Martikos, G / Surgeon, C / Tzanetis, P / Misiakos, E / Zavras, N / Charalampopoulos, A. · ·Endocr Regul · Pubmed #28222025.

ABSTRACT: The term "adrenal incidentaloma" is a radiological term. Adrenal incidentalomas are adrenal tumors discovered in an imaging study that has been obtained for indications exclusive to adrenal conditions (Udelsman 2001; Linos 2003; Bulow et al. 2006; Anagnostis et al. 2009). This definition excludes patients undergoing imaging testing as part of staging and work-up for cancer (Grumbach et al. 2003; Anagnostis et al. 2009). Papierska et al. (2013) have added the prerequisite that the size of a tumor must be "greater than 1cm in diameter", in order to be called incidentaloma. Although in the most cases these masses are non-hypersecreting and benign, they still represent an important clinical concern because of the risk of malignancy or hormone hyperfunction (Barzon et al. 2003). Th e adrenal tumors belong to the commonest incidental findings having been discovered (Kanagarajah et al. 2012).

12 Review Measuring cortisol in serum, urine and saliva - are our assays good enough? 2017

El-Farhan, Nadia / Rees, D Aled / Evans, Carol. ·1 Biochemistry Department, Royal Gwent Hospital, Newport, UK. · 2 Neuroscience and Mental Health Research Institute, Cardiff University, Cardiff, UK. · 3 Department of Medical Biochemistry and Immunology, University Hospital of Wales, Cardiff, UK. ·Ann Clin Biochem · Pubmed #28068807.

ABSTRACT: Cortisol is a steroid hormone produced in response to stress. It is essential for maintaining health and wellbeing and leads to significant morbidity when deficient or present in excess. It is lipophilic and is transported bound to cortisol-binding globulin (CBG) and albumin; a small fraction (∼10%) of total serum cortisol is unbound and biologically active. Serum cortisol assays measure total cortisol and their results can be misleading in patients with altered serum protein concentrations. Automated immunoassays are used to measure cortisol but lack specificity and show significant inter-assay differences. Liquid chromatography - tandem mass spectrometry (LC-MS/MS) offers improved specificity and sensitivity; however, cortisol cut-offs used in the short Synacthen and Dexamethasone suppression tests are yet to be validated for these assays. Urine free cortisol is used to screen for Cushing's syndrome. Unbound cortisol is excreted unchanged in the urine and 24-h urine free cortisol correlates well with mean serum-free cortisol in conditions of cortisol excess. Urine free cortisol is measured predominantly by immunoassay or LC-MS/MS. Salivary cortisol also reflects changes in unbound serum cortisol and offers a reliable alternative to measuring free cortisol in serum. LC-MS/MS is the method of choice for measuring salivary cortisol; however, its use is limited by the lack of a single, validated reference range and poorly standardized assays. This review examines the methods available for measuring cortisol in serum, urine and saliva, explores cortisol in disease and considers the difficulties of measuring cortisol in acutely unwell patients and in neonates.

13 Review MANAGEMENT OF ENDOCRINE DISEASE: Regenerative therapies in autoimmune Addison's disease. 2017

Gan, Earn H / Pearce, Simon H. ·Institute of Genetic MedicineInternational Centre for Life, Centre Parkway, Newcastle upon Tyne, UK earn.gan1@ncl.ac.uk. · Institute of Genetic MedicineInternational Centre for Life, Centre Parkway, Newcastle upon Tyne, UK. ·Eur J Endocrinol · Pubmed #27810905.

ABSTRACT: The treatment for autoimmune Addison's disease (AAD) has remained virtually unchanged in the last 60 years. Most patients have symptoms that are relatively well controlled with exogenous steroid replacement, but there may be persistent symptoms, recurrent adrenal crisis and poor quality of life, despite good compliance with optimal current treatments. Treatment with conventional exogenous steroid therapy is also associated with premature mortality, increased cardiovascular risk and complications related to excessive steroid replacement. Hence, novel therapeutic approaches have emerged in the last decade attempting to improve the long-term outcome and quality of life of patients with AAD. This review discusses the recent developments in treatment innovations for AAD, including the novel exogenous steroid formulations with the intention of mimicking the physiological biorhythm of cortisol secretion. Our group has also carried out a few studies attempting to restore endogenous glucocorticoid production via immunomodulatory and regenerative medicine approaches. The recent advances in the understanding of adrenocortical stem cell biology, and adrenal plasticity will also be discussed to help comprehend the science behind the therapeutic approaches adopted.

14 Review Conduct protocol in emergency: Acute adrenal insufficiency. 2016

Fares, Adil Bachir / Santos, Rômulo Augusto Dos. ·Medical Student, 6th year, Faculdade de Medicina de São José do Rio Preto (Famerp), São José do Rio Preto, SP, Brazil. · Degree in Endocrinology and Metabology from Sociedade Brasileira de Endocrinologia e Metabologia (SBEM). Assistant Physician at the Internal Medicine Service of Hospital de Base. Researcher at Centro Integrado de Pesquisa (CIP), Hospital de Base, São José do Rio Preto. Endocrinology Coordinator of the Specialties Outpatient Clinic (AME), São José do Rio Preto, SP, Brazil. ·Rev Assoc Med Bras (1992) · Pubmed #27992012.

ABSTRACT: Introduction:: Acute adrenal insufficiency or addisonian crisis is a rare comorbidity in emergency; however, if not properly diagnosed and treated, it may progress unfavorably. Objective:: To alert all health professionals about the diagnosis and correct treatment of this complication. Method:: We performed an extensive search of the medical literature using specific search tools, retrieving 20 articles on the topic. Results:: Addisonian crisis is a difficult diagnosis due to the unspecificity of its signs and symptoms. Nevertheless, it can be suspected in patients who enter the emergency room with complaints of abdominal pain, hypotension unresponsive to volume or vasopressor agents, clouding, and torpor. This situation may be associated with symptoms suggestive of chronic adrenal insufficiency such as hyperpigmentation, salt craving, and association with autoimmune diseases such as vitiligo and Hashimoto's thyroiditis. Hemodynamically stable patients may undergo more accurate diagnostic methods to confirm or rule out addisonian crisis. Delay to perform diagnostic tests should be avoided, in any circumstances, and unstable patients should be immediately medicated with intravenous glucocorticoid, even before confirmatory tests. Conclusion:: Acute adrenal insufficiency is a severe disease that is difficult to diagnose. It should be part of the differential diagnosis in cases of hypotensive patient who is unresponsive to vasoactive agents. Therefore, whenever this complication is considered, health professionals should aim specifically at this pathology.

15 Review Disorders of Sexual Development in Adult Women. 2016

Gomez-Lobo, Veronica / Amies Oelschlager, Anne-Marie / Anonymous22250884. ·MedStar Washington Hospital Center/Children's National Medical Center, Washington, DC; and the University of Washington School of Medicine, Seattle, Washington. · ·Obstet Gynecol · Pubmed #27741188.

ABSTRACT: Disorders (differences) of sexual development encompass a variety of conditions with atypical development of chromosomal, gonadal, or anatomic sex. Three of the most common differences of sex development conditions include congenital adrenal hyperplasia, complete androgen insensitivity, and Turner syndrome. Obstetrician-gynecologists who care for affected individuals in their practice must be familiar with the genetic, endocrine, and anatomic considerations of the most common conditions to provide optimal care. As women with these conditions transition to adult care, the gynecologist needs to assess the patient's understanding and educate her regarding her diagnosis and ongoing medical care. All of these conditions may affect self-perception, mental health, fertility, sexual function, and bone and cardiovascular health. Women with congenital adrenal hyperplasia need lifelong endocrine management and require genetic counseling before pregnancy. Women with androgen insensitivity syndrome require counseling regarding gonadectomy and hormone replacement therapy and may require vaginal elongation for intercourse. Most women with Turner syndrome experience premature ovarian insufficiency and require long-term estrogen replacement. Women with Turner syndrome often have congenital anomalies and autoimmune disorders, which require regular monitoring and care during adulthood. The purpose of this review is to provide the obstetrician-gynecologist who cares for adult women with the most common disorders (differences) of sexual development conditions an outline of the current recommendations for screening and ongoing health care with particular emphasis on the underlying genetics, management of subfertility, infertility and sexual concerns, approach to hypogonadism, and understanding of associated comorbidities.

16 Review From Appearance of Adrenal Autoantibodies to Clinical Symptoms of Addison's Disease: Natural History. 2016

Betterle, Corrado / Garelli, Silvia / Presotto, Fabio / Furmaniak, Jadwiga. · ·Front Horm Res · Pubmed #27211204.

ABSTRACT: Recent progress in the immunopathology field has greatly improved our understanding of the natural history of autoimmune diseases, particularly of Addison's disease. Addison's disease is known to be a chronic illness characterized by adrenocortical gland insufficiency that develops following a long and mainly asymptomatic period, characterized by the presence of circulating autoantibodies directed to adrenal cortex antigens. In this chapter we describe the groups of subjects at risk of developing Addison's disease, together with the diagnostic tests considered the most appropriate for evaluating adrenal function: determination of basal plasma adrenocorticotropic hormone (ACTH) levels, plasma renin activity, plasma aldosterone and cortisol levels, and cortisol levels after intravenous stimulation with ACTH (ACTH test). The employment of specific clinical, immunological and functional criteria in the subjects with autoantibodies to the adrenal cortex allows identifying those at risk of developing overt disease. The independent risk factors for the progression to adrenal failure have also been identified and they contribute to different risks of developing clinical Addison's disease. Based on the risk level, the subjects should be monitored over time to observe early signs of adrenal dysfunction, and start substitutive treatment as soon as possible. For patients presenting with high risk, prevention strategies and trials might be available.

17 Review From Genetic Predisposition to Molecular Mechanisms of Autoimmune Primary Adrenal Insufficiency. 2016

Falorni, Alberto / Brozzetti, Annalisa / Perniola, Roberto. · ·Front Horm Res · Pubmed #27211051.

ABSTRACT: Autoimmune Addison's disease (AAD) is a complex disease that results from the interaction of a predisposing genetic background with still unknown environmental factors. Pathogenic variants in the autoimmune regulator (AIRE) gene are responsible for autoimmune polyendocrine syndrome type 1, of which AAD is a major disease component. Among the genetic factors for isolated AAD and autoimmune polyendocrine syndrome type 2, a key role is played by HLA class II genes: HLA-DRB1*0301-DQA1*0501-DQB1*0201 and DRB1*04-DQA1*0301-DQB1*0302 are positively, and DRB1*0403 is negatively, associated with genetic risk for AAD. The MHC class I chain-related gene A (MICA) allele 5.1 is strongly and positively associated with AAD. Other gene polymorphisms contribute to the genetic risk for AAD, including CIITA (MHC class II transactivator), the master regulator of MHC class II expression, cytotoxic T-lymphocyte antigen-4 (CTLA-4), PTPN22, STAT4, PD-L1, NALP1, FCRL3, GPR174, GATA3, NFATC1, CYP27B1 and the vitamin D receptor.

18 Review [Addison's disease : Primary adrenal insufficiency]. 2016

Pulzer, A / Burger-Stritt, S / Hahner, S. ·Medizinische Klinik und Poliklinik I, Schwerpunkt Endokrinologie und Diabetologie, Universitätsklinikum Würzburg, Oberdürrbacher Str. 6, 97080, Würzburg, Deutschland. · Medizinische Klinik und Poliklinik I, Schwerpunkt Endokrinologie und Diabetologie, Universitätsklinikum Würzburg, Oberdürrbacher Str. 6, 97080, Würzburg, Deutschland. hahner_s@ukw.de. ·Internist (Berl) · Pubmed #27129928.

ABSTRACT: Adrenal insufficiency, a rare disorder which is characterized by the inadequate production or absence of adrenal hormones, may be classified as primary adrenal insufficiency in case of direct affection of the adrenal glands or secondary adrenal insufficiency, which is mostly due to pituitary or hypothalamic disease. Primary adrenal insufficiency affects 11 of 100,000 individuals. Clinical symptoms are mainly nonspecific and include fatigue, weight loss, and hypotension. The diagnostic test of choice is dynamic testing with synthetic ACTH. Patients suffering from chronic adrenal insufficiency require lifelong hormone supplementation. Education in dose adaption during physical and mental stress or emergency situations is essential to prevent life-threatening adrenal crises. Patients with adrenal insufficiency should carry an emergency card and emergency kit with them.

19 Review [Adrenalitis]. 2016

Saeger, W. ·Institute für Pathologie und Neuropathologie der Universität Hamburg, Universitätsklinikum Hamburg-Eppendorf (UKE), Martinistraße 52, 20246, Hamburg, Deutschland. w.saeger@uke.de. ·Pathologe · Pubmed #27099224.

ABSTRACT: Inflammation of the adrenal glands is caused by autoimmunopathies or infections and can induce adrenal insufficiency. Autoimmune lymphocytic adrenalitis is often combined with other autoimmune diseases and the most frequent cause of Addison's disease; however, it only becomes clinically apparent when more than 90 % of the adrenal cortex has been destroyed. Histological features are characterized by lymphoplasmacytic inflammation leading to an increased destruction of adrenocortical tissue but less severe courses can also occur. The second most frequent form of adrenalitis is adrenal tuberculosis, showing typical granulomatous findings that are nearly always caused by spreading from a tuberculous pulmonary focus. Other bacterial as well as viral infections, such as Epstein-Barr virus (EBV), cytomegalovirus (CMV) and others, generally affect the adrenal glands only in patients with immunodeficiency disorders. In these infections, the adrenal cortex and medulla are frequently involved to roughly the same extent. Although surgical specimens from inflammatory adrenal lesions are extremely rare, the various forms of adrenalitis play an important role in the post-mortem examination of the adrenal glands for clarification of unclear causes of death (e.g. death during an Addisonian crisis).

20 Review [Autoimmune diseases in type 1A diabetes mellitus]. 2015

Ferreira-Hermosillo, Aldo / Molina-Ayala, Mario Antonio. · ·Rev Med Chil · Pubmed #26436934.

ABSTRACT: Type 1A diabetes (DM1A) is an autoimmune disease that comprises 10% of patients with diabetes mellitus. Its frequency is gradually increasing in countries like Mexico. Patients with DM1A commonly have hypothyroidism, Addison disease, celiac disease and less common diseases such as polyglandular syndrome. These diseases are related to susceptibility genes such as HLA, CTLA-4 and PTPN22, which induce central and peripheral immunologic tolerance. This review article emphasizes the importance of searching other autoimmune diseases in patients with DM1A, to improve their prognosis and quality of life.

21 Review An overview of the nursing issues involved in caring for a child with adrenal insufficiency. 2015

Moloney, Sinéad / Murphy, Nuala / Collin, Jacqueline. ·Temple Street Children's University Hospital, Dublin. · King's College London. ·Nurs Child Young People · Pubmed #26360180.

ABSTRACT: Adrenal insufficiency is an endocrine condition defined as the inadequate production or action of glucocorticoids, principally a steroid hormone called cortisol. While rare in childhood, it carries the risk of adrenal crisis in the event of a child becoming unwell as a result of intercurrent illness, injury or surgery. Children's nurses must be vigilant in caring for a child with adrenal insufficiency and have a clear understanding and awareness of the principles of emergency management at home and in hospital.

22 Review DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease. 2015

Suntharalingham, Jenifer P / Buonocore, Federica / Duncan, Andrew J / Achermann, John C. ·Genetics & Genomic Medicine, UCL Institute of Child Health, University College London, London, UK. Electronic address: j.suntharalingam@ucl.ac.uk. · Genetics & Genomic Medicine, UCL Institute of Child Health, University College London, London, UK. Electronic address: f.buonocore@ucl.ac.uk. · Genetics & Genomic Medicine, UCL Institute of Child Health, University College London, London, UK. Electronic address: andy.duncan@ucl.ac.uk. · Genetics & Genomic Medicine, UCL Institute of Child Health, University College London, London, UK. Electronic address: j.achermann@ucl.ac.uk. ·Best Pract Res Clin Endocrinol Metab · Pubmed #26303087.

ABSTRACT: DAX-1 (NR0B1) and SF-1 (NR5A1) are two nuclear receptor transcription factors that play a key role in human adrenal and reproductive development. Loss of DAX-1 function is classically associated with X-linked adrenal hypoplasia congenita. This condition typically affects boys and presents as primary adrenal insufficiency in early infancy or childhood, hypogonadotropic hypogonadism at puberty and impaired spermatogenesis. Late onset forms of this condition and variant phenotypes are increasingly recognized. In contrast, disruption of SF-1 only rarely causes adrenal insufficiency, usually in combination with testicular dysgenesis. Variants in SF-1/NR5A1 more commonly cause a spectrum of reproductive phenotypes ranging from 46,XY DSD (partial testicular dysgenesis or reduced androgen production) and hypospadias to male factor infertility or primary ovarian insufficiency. Making a specific diagnosis of DAX-1 or SF-1 associated conditions is important for long-term monitoring of endocrine and reproductive function, appropriate genetic counselling for family members, and for providing appropriate informed support for young people.

23 Review Clinical Perspective: What Do Addison and Cushing Tell Us About Glucocorticoid Action? 2015

Harris, Charles. ·Division of Endocrinology, Metabolism and Lipid Research, Department of Internal Medicine, Washington University School of Medicine, 660 S Euclid Avenue, Campus Box 8127, St. Louis, MO, 63110, USA, caharris@dom.wustl.edu. ·Adv Exp Med Biol · Pubmed #26215991.

ABSTRACT: This chapter is distinct from the others in its clinical subject matter. I will attempt to outline the major points of interest in glucocorticoids clinically. To aid the illustration in the evaluation of a patient with Cushing disease I have created a case study.

24 Review Problems in Interpretation of the short ACTH test: an update and historical notes. 2015

Lindholm, J. ·Department of Endocrinology, Aalborg University Hospital, Aalborg, Denmark. ·Exp Clin Endocrinol Diabetes · Pubmed #25962408.

ABSTRACT: ACTH stimulation test has been used for many years. Some important questions remain unsettled. These are reviewed and discussed in detail. Interpretation of a short ACTH test rests on the fact that a close correlation exists between the responses in plasma cortisol concentrations after administration of ACTH and during insulin induced hypoglycaemia which previously was the standard test. It is generally assumed that the plasma cortisol concentration after ACTH (and insulin) mirrors the response in major stress situations (surgery and critical disease). This notion rests on few observations. Furthermore, extensive changes in protein binding of cortisol occur swiftly during stress. This complicates comparison between cortisol responses to ACTH and to critical disease. Based on published studies it is discussed whether the outcome of an ACTH test is an appropriate indicator of the need for glucocorticosteroid replacement. This issue is of particular importance when deciding if permanent glucocorticosteroid substitution is necessary or not.

25 Review Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature. 2015

Heide, Solveig / Afenjar, Alexandra / Edery, Patrick / Sanlaville, Damien / Keren, Boris / Rouen, Alexandre / Lavillaureix, Alinoë / Hyon, Capucine / Doummar, Diane / Siffroi, Jean-Pierre / Chantot-Bastaraud, Sandra. ·APHP, Hôpital Armand-Trousseau, Service de Génétique et d'Embryologie médicales, Paris, 75012, France. Electronic address: heide.solveig@gmail.com. · APHP, Hôpital Armand-Trousseau, Service de Génétique Clinique, Paris, 75012, France; APHP, Hôpital Armand-Trousseau, Service de Neuropédiatrie, Paris, 75012, France. · Hospices Civils de Lyon, Service de Génétique Clinique et Laboratoire de Cytogénétique, Lyon, 69000, France; Centre de Recherche en Neurosciences de Lyon, Inserm U1028, UMR5292, UCBL, Lyon, 69000, France. · APHP, Groupe Hospitalier Pitié-Salpêtrière, Service de Cytogénétique, Paris, 75013, France. · APHP, Hôpital Armand-Trousseau, Service de Génétique et d'Embryologie médicales, Paris, 75012, France. · APHP, Hôpital Armand-Trousseau, Service de Neuropédiatrie, Paris, 75012, France. ·Eur J Med Genet · Pubmed #25917374.

ABSTRACT: Xp21 continuous gene deletion syndrome is characterized by complex glycerol kinase deficiency (GK), adrenal hypoplasia congenital (NROB1), intellectual disability and/or Duchenne muscular dystrophy (DMD). The clinical features depend on the size of the deletion, as well as on the number and the nature of the encompassed genes. More than 100 male patients have been reported so far, while only a few cases of symptomatic female carriers have been described. We report here detailed clinical features and X chromosome inactivation analysis in two unrelated female patients with overlapping Xp21 deletions presenting with intellectual disability and inconstant muscular symptoms.