WFRF:(Schiffmann S.)
Search: WFRF:(Schiffmann S.) > Endocrine and Growt...
- 1 of 18
- Previous record
- Next record
- To hitlist
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
- Pelletier, F. (author)
- Perrier, S. (author)
- Cayami, F. K. (author)
- show more...
- Mirchi, A. (author)
- Saikali, S. (author)
- Tran, L. T. (author)
- Ulrick, N. (author)
- Guerrero, K. (author)
- Rampakakis, E. (author)
- van Spaendonk, R. M. L. (author)
- Naidu, S. (author)
- Pohl, D. (author)
- Gibson, W. T. (author)
- Demos, M. (author)
- Goizet, C. (author)
- Tejera-Martin, I. (author)
- Potic, A. (author)
- Fogel, B. L. (author)
- Brais, B. (author)
- Sylvain, M. (author)
- Sebire, G. (author)
- Lourenco, C. M. (author)
- Bonkowsky, J. L. (author)
- Catsman-Berrevoets, C. (author)
- Pinto, P. S. (author)
- Tirupathi, S. (author)
- Stromme, P. (author)
- de Grauw, T. (author)
- Gieruszczak-Bialek, D. (author)
- Krageloh-Mann, I. (author)
- Mierzewska, H. (author)
- Philippi, H. (author)
- Rankin, J. (author)
- Atik, T. (author)
- Banwell, B. (author)
- Benko, W. S. (author)
- Blaschek, A. (author)
- Bley, A. (author)
- Boltshauser, E. (author)
- Bratkovic, D. (author)
- Brozova, K. (author)
- Cimas, I. (author)
- Clough, C. (author)
- Corenblum, B. (author)
- Dinopoulos, A. (author)
- Dolan, G. (author)
- Faletra, F. (author)
- Fernandez, R. (author)
- Fletcher, J. (author)
- Garcia, M. E. G. (author)
- Gasparini, P. (author)
- Gburek-Augustat, J. (author)
- Moron, D. G. (author)
- Hamati, A. (author)
- Harting, I. (author)
- Hertzberg, C. (author)
- Hill, A. (author)
- Hobson, G. M. (author)
- Innes, A. M. (author)
- Kauffman, M. (author)
- Kirwin, S. M. (author)
- Kluger, G. (author)
- Kolditz, P. (author)
- Kotzaeridou, U. (author)
- La Piana, R. (author)
- Liston, E. (author)
- McClintock, W. (author)
- McEntagart, M. (author)
- McKenzie, F. (author)
- Melancon, S. (author)
- Misbahuddin, A. (author)
- Suri, M. (author)
- Monton, F. I. (author)
- Moutton, S. (author)
- Murphy, R. P. J. (author)
- Nickel, M. (author)
- Onay, H. (author)
- Orcesi, S. (author)
- Ozkinay, F. (author)
- Patzer, S. (author)
- Pedro, H. (author)
- Pekic, S. (author)
- Marfa, M. P. (author)
- Pizzino, A. (author)
- Plecko, B. (author)
- Poll-The, B. T. (author)
- Popovic, V. (author)
- Rating, D. (author)
- Rioux, M. F. (author)
- Espinosa, N. R. (author)
- Ronan, A. (author)
- Ostergaard, J. R. (author)
- Rossignol, E. (author)
- Sanchez-Carpintero, R. (author)
- Schossig, A. (author)
- Senbil, N. (author)
- Roos, L. K. S. (author)
- Stevens, C. A. (author)
- Synofzik, M. (author)
- Sztriha, L. (author)
- Tibussek, D. (author)
- Timmann, D. (author)
- Tonduti, D. (author)
- van de Warrenburg, B. P. (author)
- Vazquez-Lopez, M. (author)
- Venkateswaran, S. (author)
- Wassmer, E. (author)
- Webster, R. I. (author)
- Wiegand, G. (author)
- Yoon, G. (author)
- Rotteveel, J. (author)
- Schiffmann, R. (author)
- van der Knaap, M. S. (author)
- Vanderver, A. (author)
- Martos-Moreno, G. A. (author)
- Polychronakos, C. (author)
- Wolf, N. I. (author)
- Bernard, G. (author)
- show less...
- (creator_code:org_t)
- 2020-10-01
- 2021
- English.
- In: Journal of Clinical Endocrinology & Metabolism. - : The Endocrine Society. - 0021-972X .- 1945-7197. ; 106:2
- Journal article (peer-reviewed)
Abstract
Subject headings
Close
- Context: 4H or POLR3-related leukodystrophy is an autosomal recessive disorder typically characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, caused by biallelic pathogenic variants in POLR3A, POLR3B, POLR1C, and POLR3K. The endocrine and growth abnormalities associated with this disorder have not been thoroughly investigated to date. Objective: To systematically characterize endocrine abnormalities of patients with 4H leukodystrophy. Design: An international cross-sectional study was performed on 150 patients with genetically confirmed 4H leukodystrophy between 2015 and 2016. Endocrine and growth abnormalities were evaluated, and neurological and other non-neurological features were reviewed. Potential genotype/phenotype associations were also investigated. Setting: This was a multicenter retrospective study using information collected from 3 predominant centers. Patients: A total of 150 patients with 4H leukodystrophy and pathogenic variants in POLR3A, POLR3B, or POLR1C were included. Main Outcome Measures: Variables used to evaluate endocrine and growth abnormalities included pubertal history, hormone levels (estradiol, testosterone, stimulated LH and FSH, stimulated GH, IGF-I, prolactin, ACTH, cortisol, TSH, and T4), and height and head circumference charts. Results: The most common endocrine abnormalities were delayed puberty (57/74; 77% overall, 64% in males, 89% in females) and short stature (57/93; 61%), when evaluated according to physician assessment. Abnormal thyroid function was reported in 22% (13/59) of patients. Conclusions: Our results confirm pubertal abnormalities and short stature are the most common endocrine features seen in 4H leukodystrophy. However, we noted that endocrine abnormalities are typically underinvestigated in this patient population. A prospective study is required to formulate evidence-based recommendations for management of the endocrine manifestations of this disorder.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine (hsv//eng)
Keyword
- POLR3-related leukodystrophy
- 4H leukodystrophy
- hypomyelination
- hypogonadotropic hypogonadism
- Endocrinology & Metabolism
Publication and Content Type
- ref (subject category)
- art (subject category)
Find in a library
- Journal of Clinical Endocrinology & Metabolism (Search for host publication in LIBRIS)
To the university's database
- 1 of 18
- Previous record
- Next record
- To hitlist
Find more in SwePub
- By the author/editor
- Pelletier, F.
- Perrier, S.
- Cayami, F. K.
- Mirchi, A.
- Saikali, S.
- Tran, L. T.
- show more...
- Ulrick, N.
- Guerrero, K.
- Rampakakis, E.
- van Spaendonk, R ...
- Naidu, S.
- Pohl, D.
- Gibson, W. T.
- Demos, M.
- Goizet, C.
- Tejera-Martin, I ...
- Potic, A.
- Fogel, B. L.
- Brais, B.
- Sylvain, M.
- Sebire, G.
- Lourenco, C. M.
- Bonkowsky, J. L.
- Catsman-Berrevoe ...
- Pinto, P. S.
- Tirupathi, S.
- Stromme, P.
- de Grauw, T.
- Gieruszczak-Bial ...
- Krageloh-Mann, I ...
- Mierzewska, H.
- Philippi, H.
- Rankin, J.
- Atik, T.
- Banwell, B.
- Benko, W. S.
- Blaschek, A.
- Bley, A.
- Boltshauser, E.
- Bratkovic, D.
- Brozova, K.
- Cimas, I.
- Clough, C.
- Corenblum, B.
- Dinopoulos, A.
- Dolan, G.
- Faletra, F.
- Fernandez, R.
- Fletcher, J.
- Garcia, M. E. G.
- Gasparini, P.
- Gburek-Augustat, ...
- Moron, D. G.
- Hamati, A.
- Harting, I.
- Hertzberg, C.
- Hill, A.
- Hobson, G. M.
- Innes, A. M.
- Kauffman, M.
- Kirwin, S. M.
- Kluger, G.
- Kolditz, P.
- Kotzaeridou, U.
- La Piana, R.
- Liston, E.
- McClintock, W.
- McEntagart, M.
- McKenzie, F.
- Melancon, S.
- Misbahuddin, A.
- Suri, M.
- Monton, F. I.
- Moutton, S.
- Murphy, R. P. J.
- Nickel, M.
- Onay, H.
- Orcesi, S.
- Ozkinay, F.
- Patzer, S.
- Pedro, H.
- Pekic, S.
- Marfa, M. P.
- Pizzino, A.
- Plecko, B.
- Poll-The, B. T.
- Popovic, V.
- Rating, D.
- Rioux, M. F.
- Espinosa, N. R.
- Ronan, A.
- Ostergaard, J. R ...
- Rossignol, E.
- Sanchez-Carpinte ...
- Schossig, A.
- Senbil, N.
- Roos, L. K. S.
- Stevens, C. A.
- Synofzik, M.
- Sztriha, L.
- Tibussek, D.
- Timmann, D.
- Tonduti, D.
- van de Warrenbur ...
- Vazquez-Lopez, M ...
- Venkateswaran, S ...
- Wasling, Pontus, ...
- Wassmer, E.
- Webster, R. I.
- Wiegand, G.
- Yoon, G.
- Rotteveel, J.
- Schiffmann, R.
- van der Knaap, M ...
- Vanderver, A.
- Martos-Moreno, G ...
- Polychronakos, C ...
- Wolf, N. I.
- Bernard, G.
- show less...
- About the subject
-
- MEDICAL AND HEALTH SCIENCES
- MEDICAL AND HEAL ...
- and Clinical Medicin ...
- Articles in the publication
- Journal of Clini ...
- By the university
- University of Gothenburg
Search outside SwePub
- Extend your search to:
- Google Book Search
- Google Scholar
Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.
- Copyright © LIBRIS - National Library Systems
- LIBRIS.kb.se
