Pseudohypoparathyroidism in a mother and son: phenotypic variability and associated disorder

Indian Journal of Pediatrics
M RayV Parmar

Abstract

A 2-month-old infant with clinical features of hypothyroidism presented with hypocalcemic seizures. The maternal phenotypic features aroused the suspicion of pseudohypoparathyroidism which was confirmed in both by biochemical and endocrinological investigations. Though the child had clinical and radiological features to suggest hypothyroidism he had normal free thyroxine and only slightly elevated thyroid stimulating hormone levels. Special note is made of the intra and interpatient variability of this rare inherited disorder.

References

Sep 1, 1985·The Journal of Pediatrics·Y WeismanZ Farfel
Oct 1, 1969·The Journal of Clinical Investigation·L R ChaseG D Aurbach
Nov 15, 1973·The New England Journal of Medicine·M DreznerH E Lebovitz
Jul 31, 1980·The New England Journal of Medicine·Z FarfelH R Bourne
May 1, 1997·Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie·R CoutantJ L Chaussain
Jun 9, 1998·Postgraduate Medical Journal·R KhotA Satav
Apr 14, 1999·Archives of Pediatrics & Adolescent Medicine·M KappyG Kleman
Apr 20, 2000·Indian Journal of Pediatrics·S RastogiD Rastogi

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