European Journal of Pediatrics

, Volume 152, Issue 3, pp 185–189 | Cite as

Endocrine and molecular biological studies in a German family with Albright hereditary osteodystrophy

  • V. Schuster
  • T. Eschenhagen
  • K. Kruse
  • P. Gierschik
  • H. W. Kreth
Endocrinology Original Papers

Abstract

We examined a German family with five members affected by Albright hereditary osteodystrophy (AHO). The only patient with pseudohypoparathyroidism type Ia (PHP-Ia) presented clinically with latent tetany, mental retardation, round face, short stature, brachymetacarpia and calcifications of subcutaneous tissue, heart and brain, whereas all other four members with pseudopseudohypoparathyroidism (pseudo-PHP) showed only subcutaneous calcifications and brachymetaphalangia. The PHP-Ia patient exhibited hypocalcaemia, hyperphosphataemia, elevated immunoreactive parathyroid hormone (PTH), and a blunted response of cyclic adenosine monophosphate (cAMP) in plasma and urine to synthetic 1-38 hPTH. In addition, latent primary hypothyroidism was found. In contrast, all tested healthy family members as well as the patients with pseudo-PHP exhibited normal calcium metabolism including cAMP response to exogenous PTH. In Northern blot experiments all patients with AHO, regardless whether affected by PHP-Ia or pseudo-PHP, revealed significantly reduced mRNA levels coding for the α subunit of the G protein that stimulates adenylyl cyclase (G), when compared with healthy family members. In contrast, there was no significant difference between healthy and affected subjects with regard to the levels of the mRNA coding for the α subunit of Giα-2, the main inhibitory G protein of adenylyl cyclase. The results indicate that reduced expression of G is a useful genetic marker in some families with AHO, regardless whether patients are affected by PHP-Ia or by pseudo-PHP.

Key words

Albright hereditary osteodystrophy Pseudohypoparathyroidism type Ia Pseudopseudohypoparathyroidism G protein expression 

Abbreviations

AHO

Albright hereditary osteodystrophy

B-LCL

EBV-transformed lymphoblastoid B-cell line

cAMP

adenosine monophosphate

G

alpha subunit of the G protein that inhibits the adenylyl cyclase

G

alpha subunit of the G protein that stimulates the adenylyl cyclase

1-38 hPTH

synthetic amino-terminal fragment 1–38 from human PTH

PHP-Ia

pseudohypoparathyroidism type Ia

pseudo-PHP

pseudopseudohypoparathyroidism

PTH

parathyroid hormone

TSH

thyroid-stimulating hormone, thyrotropin

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Copyright information

© Springer-Verlag 1993

Authors and Affiliations

  • V. Schuster
    • 1
  • T. Eschenhagen
    • 2
  • K. Kruse
    • 3
  • P. Gierschik
    • 4
  • H. W. Kreth
    • 1
  1. 1.Department of PaediatricsUniversity of WürzburgWürzburgFederal Republic of Germany
  2. 2.University Clinic Eppendorf-HamburgFederal Republic of Germany
  3. 3.Department of PaediatricsUniversity of LübeckFederal Republic of Germany
  4. 4.Department of PharmacologyUniversity of HeidelbergFederal Republic of Germany

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