In:
American Journal of Medical Genetics, Wiley, Vol. 21, No. 3 ( 1985-07), p. 551-568
Abstract:
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 N s (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.
Type of Medium:
Online Resource
ISSN:
0148-7299
,
1096-8628
DOI:
10.1002/ajmg.1320210317
Language:
English
Publisher:
Wiley
Publication Date:
1985
detail.hit.zdb_id:
2143866-3
detail.hit.zdb_id:
2143867-5
detail.hit.zdb_id:
1493479-6
detail.hit.zdb_id:
2205916-7
SSG:
12
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