Title |
The IGSF1 Deficiency Syndrome: Characteristics of Male and Female Patients
|
---|---|
Published in |
JCEM, October 2013
|
DOI | 10.1210/jc.2013-2743 |
Pubmed ID | |
Authors |
S. D. Joustra, N. Schoenmakers, L. Persani, I. Campi, M. Bonomi, G. Radetti, P. Beck-Peccoz, H. Zhu, T. M. E. Davis, Y. Sun, E. P. Corssmit, N. M. Appelman-Dijkstra, C. A. Heinen, A. M. Pereira, A. J. Varewijck, J. A. M. J. L. Janssen, E. Endert, R. C. Hennekam, M. P. Lombardi, M. M. A. M. Mannens, B. Bak, D. J. Bernard, M. H. Breuning, K. Chatterjee, M. T. Dattani, W. Oostdijk, N. R. Biermasz, J. M. Wit, A. S. P. van Trotsenburg |
Abstract |
Ig superfamily member 1 (IGSF1) deficiency was recently discovered as a novel X-linked cause of central hypothyroidism (CeH) and macro-orchidism. However, clinical and biochemical data regarding growth, puberty, and metabolic outcome, as well as features of female carriers, are scarce. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 50 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 6 | 12% |
Student > Doctoral Student | 5 | 10% |
Student > Bachelor | 5 | 10% |
Researcher | 4 | 8% |
Professor | 3 | 6% |
Other | 14 | 28% |
Unknown | 13 | 26% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 26 | 52% |
Biochemistry, Genetics and Molecular Biology | 3 | 6% |
Agricultural and Biological Sciences | 3 | 6% |
Business, Management and Accounting | 2 | 4% |
Immunology and Microbiology | 2 | 4% |
Other | 4 | 8% |
Unknown | 10 | 20% |