Differential diagnosis in young women with oligomenorrhea and the pseudo-pseudohypoparathyroidism variant of Albright's hereditary osteodystrophy.
Oligomenorrhea was the reason for consultation in three individuals (two sisters and one unrelated woman) with the pseudo-pseudohypoparathyroidism (PPHP) variant of Albright's hereditary osteodystrophy (AHO). All had short stature, Ullrich-Turner-like signs, acral anomalies typical of AHO/brachydactyly E, and hypogonadism. One of the three individuals also had reduced erythrocyte NS (a membrane nucleotide regulatory protein that is required for functional coupling of stimulatory hormone receptors and catalytic adenylate cyclase) activity as described in the pseudohypoparathyroidism variant of AHO. The differential diagnosis of young women with the PPHP phenotype is discussed with special reference to Ullrich-Turner syndrome, brachydactyly E, the "resistant ovary" syndrome, and acrodysostosis.
D000293:Adolescent; D000328:Adult; D003878:Dermatoglyphics; D003937:Diagnosis, Differential; D005260:Female; D014644:Genetic Variation; D006801:Humans; D008599:Menstruation Disturbances / Q000235:genetics*; D009839:Oligomenorrhea / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011556:Pseudopseudohypoparathyroidism / Q000235:genetics*; D013577:Syndrome; D014424:Turner Syndrome / Q000175:diagnosis