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December 1965

Gonadal Dysgenesis and Brachymetacarpal Dwarfism: (Pseudopseudohypoparathyroidism)

Author Affiliations


From the Chromosome Research Laboratory, Division of Neurology, University of Virginia School of Medicine, Charlottesville, and the Lynchburg Training School and Hospital, Colony, Va.

Arch Intern Med. 1965;116(6):940-943. doi:10.1001/archinte.1965.03870060138028

WOMEN OMEN who lack one X chromosome (45 XO) are sex chromatin negative and have gonadal dysgenesis, usually associated with short stature and sexual infantilism. Such patients often suffer many other anomalies, as has been documented in numerous clinical and cytogenetic investigations. These reports cite several individuals whose appearance mimics that of another unusual clinical syndrome, pseudopseudohypoparathyroidism (PPH),1 a clinical entity unrelated to known parathyroid dysfunction, for which several alternative names have been proposed, including Albright's hereditary osteodystrophy2 and brachymetacarpal dwarfism.3 PPH denotes normocalcemic individuals with a set of anomalies, primarily skeletal, which are sufficiently distinct to permit clinical recognition. When the same anomalies occur in association with hypocalcemia, the term pseudohypoparathyroidism (PH) applies. The classification and possible relationship of PH, PPH, and gonadal dysgenesis are unclear, and further knowledge of etiological factors is needed to allow more precise understanding.

During the course of cytogenetic investigations at