Turner Syndrome with Pseudohypoparathyroidism: A Case Report


  • Mohd Razi Syed L.L.R.M. Medical College, Meerut
  • Abhinav Gupta L.L.R.M Medical College, Meerut
  • Deepak Gupta L.L.R.M Medical College, Meerut
  • Manish Gutch King George's Medical University, Lucknow
  • Keshav Gupta L.L.R.M. Medical College, Meerut


pseudohypoparathyroidism, Turner syndrome, Albright’s hereditary osteodystrophy


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.


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Author Biography

Mohd Razi Syed, L.L.R.M. Medical College, Meerut

Senior Resident 

Department of Endocrinology


Mantovani G. Pseudohypoparathyroidism: Diagnosis and treatment.

J Clin Endocrinol Metab. 2011;96(10):3020-30. https://doi.org//


Eyre WG, Reed WB. Albright's hereditary osteodystrophy with

cutaneous bone formation. Arch Dermatol. 1971;104(6):634-42.


Farfel ZV, Friedman E. Mental deficiency in

pseudohypoparathyroidism type I is associated with Ns-protein

deficiency. Ann Intern Med. 1986;105(2):197-9. https://doi.org/


Sybert VP, McCauley E. Turner's syndrome. N Engl J Med.

;351:1227-38. https://doi.org/ 10.1056/NEJMra030360.

Albright F, Burnett C, Smith P, Parson W.

Pseudohypoparathyroidism : An example of “Seabright-Bantam

syndrome”: Report of three cases. Endocrinology. 1942;30:922.

Bondy CA and for the Turner Syndrome Consensus Study Group.

Care of girls and women with Turner syndrome: A guideline of the

Turner Syndrome Study Group. J Clin Endocrinol Metab.

;92(1):10-25. https://doi.org /10.1210/jc.2006-1374.

Davenport ML. Approach to the patient with Turner syndrome. J Clin

Endocrinol Metab. 2010;95(4):1487-95. https://doi.org/10.1210/


Zeng WH, Xu JJ, Jia MY, Ren YZ. Pseudohypoparathyroidism with

Hashimoto’s thyroiditis and Turner syndrome: A case report.

Gynecol Endocrinol. 2014;30(10):694-6. https://doi.org/10.3109/


Stoffer SS. Turner's syndrome and pseudopseudohypoparathyroidism.

J Am Med Assoc.1982;247(12):1696. https://doi.org/10.1001/jama.


Zhu J, Wang D, Ren A, Xing Y, Zhang D, Wei J, Yu N, Xing X, Ye S.

Abnormal methylation status of the GNAS Exon 1A Region in

pseudohypohyperparathyroidism combined with Turner syndrome.

Am J Med Sci. 2015;350(6):458-62. https://doi.org/10.1097/




How to Cite

Syed, M. R., Gupta, A., Gupta, D., Gutch, M., & Gupta, K. (2016). Turner Syndrome with Pseudohypoparathyroidism: A Case Report. Journal of the ASEAN Federation of Endocrine Societies, 31(2), 155. Retrieved from https://www.asean-endocrinejournal.org/index.php/JAFES/article/view/313



Case Reports