Background: Pseudohypoparathyroidism (PHP) is a rare condition with heterogeneous presentation. It is divided in various subgroups depending upon the manifestations. Type 1a Pseudohypoparathyroidism usually presents with brachydactyly, short stature along with other manifestations of Albrights hereditary osteodystrophy (AHO) like obesity, mental retardation. The basic pathology is resistance to hormonal actions associated with G protein coupled receptors due defective GNAS activity. This leads to resistance to other hormones like TSH, gonadotropins and GHRH. Turners syndrome usually manifests with short stature with lack of secondary sexual characters along with other stigmata like increased propensity to autoimmune disorders, short 4th metacarpals, cubitus valgus, shield chest etc.
Objective and hypotheses: To diagnose a case of association of Turners Syndrome and Pseudohypoparathyroidism Type1a.
Method: We describe a case of a 15 year old Asian Indian female who presented with short stature and delayed puberty. On examination she was found to have round facies, significant short stature, brachydactyly and no pubertal changes. On the biochemical evaluation patient had hypocalcemia, hyperphosphatemia, increased parathormone and hypergonadotropic hypogonadism and subclinical hypothyroidism. X-ray hand revealed the characteristic manifestations of PHP. The tentative diagnosis of PHP was made. Patients ultrasound abdomen revealed streak ovaries along with hypoplastic uterus and finally patients karyotype showed 45, XO confirming the diagnosis of Turners syndrome.
Results: The patient was diagnosed to be a case of Turners Syndrome associated with Pseudohypoparathyroidism Type 1a and was treated with adequate dose of thyroxoine along with calcium and calcitriol supplementation.
Conclusion: At times it becomes difficult to differentiate between PHP and Turners syndrome due similar presentation of both disorders and also because of heterogeneity of presenting features. A timely diagnosis and treatment can prevent devastating complications.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology