Abstract | CONTEXT: OBJECTIVE: The objective of the study was to assess AMH levels in females with DC or DBA. DESIGN AND SETTING: PARTICIPANTS: The study included females with DC, unaffected female relatives of patients with DC, females with DBA, unaffected female relatives of patients with DBA, and unrelated healthy female volunteers younger than 41 years of age. MAIN OUTCOME MEASURE: Serum AMH levels were measured. RESULTS: Females with DC had significantly lower levels of AMH (median 0.55 ng/mL) compared with unaffected relatives (median 2.28 ng/mL, P = .004) or unrelated healthy volunteers (median 2.69 ng/mL, P = .005). Females with DBA showed a nonsignificant trend for lower levels of AMH (median 0.89 ng/mL) compared with unaffected relatives (median 1.71 ng/mL, P = .21) or unrelated healthy volunteers ( P = .11). Patients with DC and DBA had significantly higher levels of AMH (P = .013, P = .003) compared with FA (median 0.05 ng/mL). CONCLUSIONS: Our findings suggest that women with IBMFS have lower levels of AMH than unaffected women. This AMH deficiency could be a primary ovarian defect or a consequence of the pathophysiology of the syndromes. Additional studies of AMH and ovarian function in women with IBMFS are warranted to better understand the underlying biology.
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Authors | Martha M Sklavos, Pamela Stratton, Neelam Giri, Blanche P Alter, Sharon A Savage, Ligia A Pinto |
Journal | The Journal of clinical endocrinology and metabolism
(J Clin Endocrinol Metab)
Vol. 100
Issue 2
Pg. E197-203
(Feb 2015)
ISSN: 1945-7197 [Electronic] United States |
PMID | 25405500
(Publication Type: Journal Article, Observational Study, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)
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Chemical References |
- Biomarkers
- Anti-Mullerian Hormone
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Topics |
- Adolescent
- Adult
- Anemia, Diamond-Blackfan
(blood)
- Anti-Mullerian Hormone
(blood)
- Biomarkers
(blood)
- Child
- Child, Preschool
- Cross-Sectional Studies
- Dyskeratosis Congenita
(blood)
- Female
- Humans
- Young Adult
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