scholarly journals Unusual Presentation of Precocious Puberty and Alopecia Universalis in Saudi Patients with Autoimmune Polyglandular Syndrome Type 1(APS1) without Any Other Manifestation of the Disease: Case Report and a Brief Review of the Literature

2020 ◽  
Vol 09 (07) ◽  
pp. 208-216
Author(s):  
Aida Al Jabri ◽  
Aminah Al Essa ◽  
Sakinah Al Shaib
Keyword(s):  
Case Report ◽  
Precocious Puberty ◽  
Unusual Presentation ◽  
Syndrome Type ◽  
Review Of The Literature ◽  
Autoimmune Polyglandular Syndrome ◽  
Disease Case ◽  
Autoimmune Polyglandular Syndrome Type ◽  
Saudi Patients

scholarly journals Autoimmune Polyglandular Syndrome Type 1: a case report

2019 ◽  
Vol 20 (1) ◽  
Author(s):  
Sayed Mahmoud Sajjadi-Jazi ◽  
Akbar Soltani ◽  
Samaneh Enayati ◽  
Armita Kakavand Hamidi ◽  
Mahsa M. Amoli
Keyword(s):  
Case Report ◽  
Syndrome Type ◽  
Autoimmune Polyglandular Syndrome ◽  
Autoimmune Polyglandular Syndrome Type

Retropharyngeal abscess: An unusual presentation of Kawasaki disease. Case report and review of the literature

2012 ◽  
Vol 7 (4) ◽  
pp. 179-182 ◽  
Author(s):  
Maria Elena Cavicchiolo ◽  
Paola Berlese ◽  
Silvia Bressan ◽  
Elena Trincia ◽  
Ingrid Inches ◽  
...  
Keyword(s):  
Case Report ◽  
Kawasaki Disease ◽  
Unusual Presentation ◽  
Retropharyngeal Abscess ◽  
Review Of The Literature ◽  
Disease Case

Atypical presentation of autoimmune polyglandular syndrome type 1 in the fifth decade

2021 ◽  
Vol 14 (4) ◽  
pp. e241680
Author(s):  
Aditya Sanjeevi ◽  
Adlyne Reena Asirvatham ◽  
Karthik Balachandran ◽  
Shriraam Mahadevan
Keyword(s):  
Adrenal Insufficiency ◽  
Vitamin D Supplementation ◽  
Chronic Mucocutaneous Candidiasis ◽  
Syndrome Type ◽  
Primary Amenorrhoea ◽  
Autoimmune Polyglandular Syndrome ◽  
Nail Changes ◽  
History Of ◽  
Autoimmune Polyglandular Syndrome Type

A 45-year-old woman presented to us with a short-term history of nausea, vomiting and giddiness. On arrival at our hospital, examination revealed postural hypotension. Fluid resuscitation with intravenous normal saline was commenced. She also had chronic mucocutaneous candidiasis and nail changes suggestive of ectodermal dystrophy. Detailed history taking revealed that she had never attained menarche. Serum biochemistries showed hyponatraemia, hyperkalaemia, and hypocalcaemia (sodium, 127 mEq/L; potassium, 6 mEq/L; and albumin-corrected calcium, 6 mg/dL). Adrenocorticotropic hormone-stimulated cortisol (16.7 mcg/dL) was suboptimal favouring adrenal insufficiency. She was started on hydrocortisone and fludrocortisone supplementation. Additionally, the parathyroid hormone was inappropriately low (3.8 pg/mL) confirming hypoparathyroidism. Oral calcium and active vitamin D supplementation were added. With the above clinical and biochemical picture, namely, clustering of primary amenorrhoea, adrenal insufficiency and hypoparathyroidism, the diagnosis pointed towards autoimmune polyglandular syndrome. Genetic workup revealed a deletion in exon 8 of the autoimmune regulator gene confirming the diagnosis of autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy/autoimmune polyglandular syndrome type 1 .

Sign in / Sign up

Export Citation Format

Share Document