Turner Syndrome with Pseudohypoparathyroidism: A Case Report
| Autor: | Abhinav Gupta, Mohd. Razi Syed, Manish Gutch, Deepak Gupta, Keshav Kumar Gupta |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
musculoskeletal diseases
Delayed puberty Pediatrics medicine.medical_specialty endocrine system diseases business.industry Endocrinology Diabetes and Metabolism Diagnostic dilemma medicine.disease Short stature Endocrinology Internal medicine Turner syndrome Medicine natural sciences Stigmata medicine.symptom business Albright's hereditary osteodystrophy Pseudohypoparathyroidism |
| Zdroj: | Journal of the ASEAN Federation of Endocrine Societies. 31:155-159 |
| ISSN: | 2308-118X 0857-1074 |
| Popis: | The association of Pseudohypoparathyroidism (PHP) with Turner syndrome is very rare and only a single case has been reported so far. Both manifest with short stature and lack of secondary sexual characteristics along with other stigmata similar to each other, creating a diagnostic dilemma. We describe a case of a 15-year-old Asian Indian female who presented with short stature and delayed puberty with overlapping phenotype of PHP and Turner syndrome. The diagnosis of Turner syndrome was made easily on the basis of typical history, clinical features and karyotype but the diagnosis of PHP was suspected only after radiological and biochemical investigations. The association of Turner syndrome with PHP can be easily missed due to similar phenotypes and subtle manifestations. |
| Databáze: | OpenAIRE |
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