Endocrine Abstracts

Pseudohypoparathyroidism (PHP) is an uncommon sporadic or inherited genetic disorder subdivided into several distinct entities characterized by parathyroid hormone (PTH) resistance in association with distinctive skeletal and developmental defects.

We report a case of a 7 years and 8 months old boy, evaluated at the Endocrinology Department of ‘St Spiridon’ Hospital Iasi in January 2013, who had a history of hypothyroidism diagnosed at the age of 4 years 6 months (for which he received Euthyrox 50 μg/day) in association with generalized seizures considered to be epileptic (treated with Phenobarbital, brain CT scan performed in 2010 showed calcifications in lenticular nucleus), a delay in language development which lead to a diagnoses of autism, left congenital undescended testis, and hypospadias.

Clinical examination revealed a rounded facies, short neck, flattened nasal pyramid, delayed teeth development with bad implantation, a brachymetacarpia of the fifth finger in both hands, and elements that can be included in Albright’s hereditary osteodystrophy (AHO). The boy had short stature (−1.7 S.D.), obesity (+4.4 S.D.), and PI GI pubertal stage.

Biological tests showed hypocalcemia, together with hyperphosphataemia and hypocalciuria but with an elevated PTH level which are arguments that beside clinical findings of AHO strongly advocate for PHP type 1a.

During the following months several therapeutic adjustments (calcium and vitamin D supplementation) were needed to maintain an adequate calcium–phosphate balance and currently the patient has achieved a satisfactory calcium–phosphate homeostasis.

Conclusions: The present case highlights the difficulty of an early correct diagnosis of PHP. In this context it is possible that mental retardation and delayed language development may have been due to PHP and seizures could have been the first manifestation of hypocalcaemia. We underline the importance of a complete biochemical investigation of the calcium–phosphate metabolism to recognize typical biochemical alterations associated with this condition together with the phenotypic aspect that often escapes to be noticed.