|
KMID : 1100120220290040271
|
|
대한골대사학회지
2022 Volume.29 No. 4 p.271 ~ p.277
|
|
|
Five-Year Assessment of Multiple Gene Variants Associated with Bone Marrow Hypocellularity, Reduced Bone Density, and Ovarian Insufficiency in Adolescence
|
|
Sills E. Scott
Harrity Conor
Wood Samuel H.
|
|
|
Abstract
|
|
|
This study covers the 5-year interval prior to COVID-19 admission for an otherwise healthy 46,XX adolescent expanding the developmental characterization of an unusual conver- gence of amenorrhea and genetic mutations. The patient experienced rapid collapse of endogenous estradiol output followed by secondary amenorrhea at 13 years of age. Eu- ploid, diffusely hypocellular bone marrow was present on biopsy, although anemia or reduced total immunoglobulin production was not identified. Bone density was 1.5 years below mean; multiple dental anomalies were also documented. While alterations in “master regulator” genes RUNX2, SALL1, and SAMD9 are usually diagnosed in early child- hood when missed milestones, dysmorphic features, or chronic infection/immune im- pairment warrant cross-disciplinary evaluation, this study is the first known report to as- sociate ovarian failure with adolescence with such variants. Immunoglobulin patterns, osseous histomorphology, dentition, hematology/renal screening, pelvic anatomy, ovar- ian reserve data, and thyroid findings are also correlated. Although severe pathology is typically encountered when any of these genes are disrupted alone, this longitudinal survey reveals that a mild phenotype can prevail if these 3 variants occur simultaneously.
Periodic monitoring is planned given the unclassified status of this unique mutation set.
|
|
|
KEYWORD
|
|
|
Genetic variation, Hypocellular marrow, Premature ovarian insufficiency
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
 
|
|