JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

International Meeting on G_sa Related Diseases:
McCune-Albright Syndrome-Pseudohypoparathyroidism

Selected Proceedings of a Meeting held in Turin, Italy, December, 2004

Guest Editors: Luisa de Sanctis and Roberto Lala

Foreword

McCune-Albright syndrome and pseudohypoparathyroidism are rare diseases which until recently have been treated as separate and unrelated entities. From the end of the 1980s, mutations in the GNAS1 gene have been recognized as a common pathogenetic factor in both diseases.

These data have given rise to an even stronger interest for investigators of both disorders to pool their knowledge and to work together in a meaningful way.

Basic researchers and clinicians have felt the need to collaborate in order to give significance to their specific fields of study. In addition, a helping hand in their efforts has come from patient support groups, which constantly stimulate everyone interested in this matter to improve communications and work together. This aim was reached by the International Meeting on G_sa Related Diseases: McCune-Albright Syndrome-Pseudohypoparathyroidism, in Turin in December, 2004.

We hope that this Supplement continues in the direction of enriching the international network of specialists and spreading information dealing with these rare diseases.

We would like to thank all the contributors and in particular the European Association Friends of McCune-Albright Syndrome (EAMAS) for helping in the organization of the Meeting and in sponsoring these Proceedings.

Luisa de Sanctis

Roberto Lala

CONTENTS

Foreword ...................... 549

McCune-Albright Syndrome: Clinical Picture and Natural History in Children and Adolescents

T.M.K. Völkl and H.G. Dörr, Germany ...................... 551

Image Diagnosis in McCune-Albright Syndrome

C. Defilippi, D. Chiappetta, D. Marzari, A. Mussa and R. Lala, Italy ........................ 561

Laparoscopic Management of Ovarian Cysts in Peripheral Precocious Puberty of McCune-Albright Syndrome

R. Gesmundo, R. Guanà, L. Valfrè, L. De Sanctis, P. Matarazzo, D. Marzari and R. Lala, Italy .................... 571

Genetics of McCune-Albright Syndrome

L. de Sanctis, L. Delmastro, M. Chiara Russo, P. Matarazzo, R. Lala and C. de Sanctis, Italy................. 577

Bisphosphonate Treatment of Bone Fibrous Dysplasia in McCune-Albright Syndrome

R. Lala, P. Matarazzo, M. Andreo, D. Marzari, J. Bellone, A. Corrias and C. de Sanctis, on behalf of the Study Group for G_sa Protein Related Diseases of the Italian Society for Pediatric Endocrinology and Diabetes, Italy ........................ 583

Craniofacial Surgery in Fibrous Dysplasia

F. Giordano, P. Serio, S. Savasta, G. Oliveri and L. Genitori, Italy ................................. 595

G_sa-related Precocious Puberty in Females: Focus on Treatment

T.S. Hannon, USA .......................... 605

McCune-Albright Syndrome: Persistence of Autonomous Ovarian Hyperfunction During Adolescence and Early Adult Age

P. Matarazzo, R. Lala, M. Andreo, S. Einaudi, F. Altare, E. Viora, F. Buzi, F. De Luca, V. De Sanctis, F. Rigon, M. Wasniewska, L. de Sanctis and C. de Sanctis, on behalf of the Study Group for G_sa Protein Related Diseases of the Italian Society for Pediatric Endocrinology and Diabetes, Italy .............. 607

Clinical Presentation of McCune-Albright Syndrome in Males

M. Wasniewska, P. Matarazzo, G. Weber, G. Russo, M. Zampolli, G. Salzano, G. Zirilli and S. Bertelloni, on behalf of the Italian Study Group for Alterations of G_sa Protein Function, Italy ........................ 619

McCune-Albright Syndrome: Growth Hormone and Prolactin Hypersecretion

A. Christoforidis, I. Maniadaki and R. Stanhope, UK .......................... 623

Pseudohypoparathyroidism: History of the Disease

L. de Sanctis, Italy .............................. 627

Genetics of Pseudohypoparathyroidism Types Ia and Ic

M.A. Aldred, UK .......................... 635

Different Mutations Within or Upstream of the GNAS Locus Cause Distinct Forms of Pseudohypoparathyroidism

H. Jüppner and M. Bastepe, USA ...................... 641

Determination of G_sa Protein Activity in Albright’s Hereditary Osteodystrophy

W. Ahrens and O. Hiort, Germany .......................... 647

Multihormonal Resistance to Parathyroid Hormone, Thyroid Stimulating Hormone, and Other Hormonal and Neurosensory Stimuli in Patients with Pseudohypoparathyroidism

J.-L. Wémeau, A.-S. Balavoine, M. Ladsous, F.-L. Velayoudom-Cephise and V. Vlaeminck-Guillem, France .................. 653

Resistance to Growth Hormone Releasing Hormone and Gonadotropins

G. Mantovani and A. Spada, Italy ..................... 663

Albright’s Hereditary Osteodystrophy

L.C. Wilson, UK ................. 671

EAMAS ...................... 675

___________________________________________________

Journal of Pediatric Endocrinology & Metabolism

Vol. 19, Supplement 2, 2006

130 pp, $50.00

ISSN 0334-018X/19-S2

© 2006 Freund Publishing House