Pseudohypoparathyroidism 1a – A New Case Report
Journal Title: Open Access Journal of Endocrinology - Year 2018, Vol 2, Issue 2
Abstract
Patients with Pseudohypoparathyroidism 1a (PHP-1a) have a typical phenotype, described for the first time by Albright, and therefore called Albright’s Hereditary Osteodistrophy (AHO). It is characterized by a round face, flat, wide and low nasal bridge, short neck, obesity, short stature, subcutaneous calcifications and skeletal abnormalities (genu valgum, cubitus valgus, brachydactyly of the 4th and 5th fingers). We presented a case of a 2-month old boy with coarse face (macroglossia, flat, wide and low nasal bridge, pre-auricular pitts), disproportionately short lower limbs and umbilical hernia. Blood test showed TSH :11.7µU/mL, Parathyroid hormone (PTH) was 329.20pg/mL, serum calcium 10.3mg/dL and phosphorus 7.1mg/dL. The diagnosis was confirmed with the identification of an inactivating mutation of the GNAS gene on the 20 chromosome (c.1096G>A). We started treatment with oral calcium, calcitriol and levothyroxine. Because of recurrent intense headache, with multiple emergency department visits, he underwent computer tomography that revealed typical images of basal ganglia calcification. Currently with 15 years old, he has typical AHO phenotype.
Authors and Affiliations
Maria Adriana Rangel
Keywords
Related Articles
- EP ID EP448898
- DOI 10.23880/oaje-16000123
- Views 54
- Downloads 0
Spectrum of Diabetic Kidney Disease in India - A Tertiary Care Centre Experience
Objectives / Aim of study: To assess the magnitude, clinico-social risk factors and associations of diabetic kidney disease in type 2 diabetes subjects attending a tertiary care centre in Eastern India. Materials and Me...
Autosomal Dominant Hypophosphatemic Rickets: A Case Report
Autosomal dominant hypophosphatemic rickets (ADHR) is characterized by isolated renal phosphate wasting, hypophosphatemia, and inappropriately normal 1,25-dihydroxyvitamin D3 (calcitriol) levels. We present a 3 y old gir...
Lymphadenopathy in Autoimmune Thyroiditis: Paratracheal Lymph Nodes are Indeed Crucial
Cervical lymphadenopathy is common in patients with autoimmune thyroiditis and supposed to be pathognomic for the disease if found in the paratracheal compartment (Robbins level VI). The aim of this prospective study is...
Evaluation of Thyroid Function in a Group of Recently Diagnosed Patients with Thyroid Diseases Followed up at the Endocrinology Outpatient Clinic of the University of Ribeirão Preto (Unaerp) - São Paulo, Brazil
Introduction: The determination of thyroid dysfunction is part of the clinical investigation in different medical specialties. Non-thyroid disorders, certain medications and age may affect the hormonal results. The prese...
Trans Oral Endoscopic Thyroidectomy Vestibular Approach (TOETVA): A Case Report as a New Procedure in Iraq
Introduction: The transoral endoscopic thyroidectomy vestibular approach; Is a new pioneering procedure, natural orifice surgery, truly scar free and involves minimal dissection, thus resulting in excellent cosmetic resu...