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Albright's Hereditary Poly-Osteochondrodystrophy — (Pseudo-pseudo-hypoparathyroidism with diabetes hypertension, arteritis and polyarthrosis)

Published online by Cambridge University Press:  01 August 2014

Luc Goeminne
Luc Goeminne*
Affiliation:
Clinique Médicale, de l'Université de Gand

Summary

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A large kindred (4 generations) with pseudo-pseudo-hypoparathyroidism (PPHP) and the clinical, biological and anthropometric features of this syndrome are extensively described.

The association of PPHP with diabetes, hypertension, hypothyroidism, polyarthrosis and peripheral arteritis is very probably significant.

Gonadal dysgenesis with brachymetacarpy must clearly be distinguished from PPHP.

The transmission of PPHP is probably not sex-linked dominant but autosomal dominant with an incomplete penetrance of about 50%, a varying expressivity and weak familial specificity. Partial sex limiting or sex predominance may occur, instead of true sex-linkage in this condition.

Riassunto

RIASSUNTO

L'autore descrive nuovi casi di pseudopseu-doipoparatiroidismo in quattro generazioni di una stessa famiglia, facendo una esposizione dettagliata e completa dei dati clinici, biologici e antropometrici di questa sindrome.

Egli insiste sull'associazione significativa del diabete, dell'ipertensione, dell'ipotiroidismo, della poliartrosi e della arterite periferica nella poli-osteo-condro-distrofia ereditaria di Albright, riportando numerosi esempi.

Nota le differenze fondamentali tra la sindrome di Turner con brachimetacarpia e lo pseudo-pseudo-paratiroidismo, la cui trasmissione ereditaria non ha caratteristiche identiche.

Dalle premesse dell'autore risulta comprovata per la prima volta la trasmissione con dominanza autosomica, non legata al sesso, di questa sindrome.

La penetranza è del 50%, l'espressività è variabile, la specificità abbastanza debole e la predominanza molto netta. Dei casi esaminati il 75% è costituito da soggetti femminili.

Résumé

RÉSUMÉ

L'auteur rapporte plusieurs nouveaux cas de pseudo-pseudo-hypoparathyroïdisme dans 4 générations d'une seule famille.

Il fait la description complète des signes cliniques, biologiques et anthropométriques de ce syndrome.

Il insiste sur l'association significative du diabète, de l'hypertension, de l'hypothyroïdisme, de la polyarthrose et de l'artérite périphérique dans la poly-osteo-chondro-dystrophie héréditaire d'Albright. Il en décrit plusieurs exemples.

Il insiste sur les différences fondamentales entre le syndrome de Turner avec brachyméta-carpie et le pseudo-pseudo-hypoparathyroïdisme. Leur transmission héréditaire n'est pas identique.

Pour la première fois, la transmission en dominance autosomale non liée au sexe est ainsi établie pour ce syndrome. La pénétrance est de 50%, l'expressivité est variable, la spécificité est assez faible, la prédominance sexuelle est assez nette (75% des cas sont de sexe féminin).

Zusammenfassung

ZUSAMMENFASSUNG

Verf. hat etwa 15 neue Fälle mit Pseudo-pseudo-hypo-parathyreoidismus in einer grossen Sippe mit 4 Generationen beschrieben. Eine klare Vater-Sohn-Übertragung kommt dabei vor. Bisher liegen keine umfangreichen Sippenuntersuchungen über dieses Syndrom vor. Verf. gibt eine umfangreiche Beschreibung der klinischen erkmale dieser Erkrankung. Diabetes, Hochdruck, Hypothyreoidismus, Polyarthrosis und periphere Arteriitis kommen häufig vor in der Albright' schen Polyosteochondrodystrophie. Mehrere Fälle kamen zu Beobachtung.

Sicher sind Pseudo-pseudo-hypoparathyreoidismus und Gonadendysgenesie mit Brachymetacarpie ganz verschiedene Krankheiten. Auch der Erbgang ist grundverschieden.

Durch unsere Beobachtungen besteht heute kein Zweifel mehr darüber dass diese Erkrankung autosomal dominant und nicht X-chromosomal verebt wird. Die Penetranz ist 50%. Das Krankheitsbild ist wechselnd. Die Spezifizität ist schwach. Die Frauen sind dreimal so haüfig befallen wie die Männer (sexuelle Prädominanz).

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 14 , Issue 3 , July 1965 , pp. 226 - 281
Copyright
Copyright © The International Society for Twin Studies 1965

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