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PHP is a rare endocrine disorder presenting with hypocalcemia, hyperphosphatemia and increased PTH values due to a variable resistance to its action in target organs, mainly the proximal renal nephron. At present, no data exist about its exact prevalence, although according to Orphanet Report Series it has been estimated to be 0.79/100.000. Based on the associated somatic and biochemical features PHP is subdivided in different types: PHP type 1a (PHP1a), PHP type 1b (PHP1b), PHP type 1c (PHP1c) and PHP type 2 (PHP2). PHP1a patients present with a distinctive phenotype called Albright’s hereditary osteodystrophy (AHO), characterized by short stature, obesity, round face, brachydactyly and subcutaneous ossifications. The molecular pathogenesis is due to maternally inherited inactivating mutations in the GNAS gene on chromosome 20q that encodes the a-subunit of the stimulatory G-protein (Gsa). The expression of Gsa in variable tissues explains the variable resistance to multiple hormones that act through it (TSH, ACTH, GHRH, glucagon, gonadotropins). On the other hand, patients with paternally inherited mutations are affected by pseudo-pseudohypoparathyrodism (PPHP), manifesting AHO features without any biochemical alteration. Since Gsα is mainly transcribed from the maternal allele in the tissues such as proximal renal tubule, thyroid and ovary where PTH, TSH, LH and FSH act respectively, their action is exerted normally if the mutation is transmitted by the paternal allele. The hallmark of PHP1b is renal unresponsiveness to PTH and absence of either AHO phenotype or resistance to other hormones (in some a mild resistance to TSH is reported). It is caused by modifications in the methylation pattern of the GNAS locus, namely a loss of methylation in the maternal exon A/B, sometimes in combination with other epigenetic defects in other regions of the locus. PHP1b is transmitted in an autosomal dominant manner (AD-PHP1b), although most of the cases are sporadic. Cases due to paternal 20q dysomies are also reported. Moreover, the hypothesis of an autosomal recessive pattern has also been generated to explain the molecular mechanism of sporadic PHP1b in some kindreds. Clinical diagnosis of PHP1b may be accordant Abstract Pseudohypoparathyroidism (PHP) is a heterogeneous inherited disease characterized by unresponsiveness to parathyroid hormone (PTH) in its target organs. The constant finding in patients with PHP is hypocalcemia and hyperphosphatemia with elevated serum PTH levels. Several distinct entities cluster this disorder. PHP type 1 differs from PHP type 2 in that there is a reduced urinary cAMP excretion in response to administration of PTH. Here we report a young female with PHP at late-onset, yet to be differentiated between type 1b and type 2 due to economic struggles that most of our patients face now days. Despite the circumstances the patient was put on treatment since diagnosis with improvement of all biochemical parameters and amelioration of symptomatology. Further diagnostic testing will be held as soon as possible to meet the definitive diagnosis.

A case of Adult onset Pseudohypoparathyroidism yet to be resolved: “No money no genetics”