Use of Teriparatide, Denosumab, and Romosozumab in a Postpartum Monogenic Osteoporosis With a <i>WNT1</i> Pathogenic Variation.

Early-onset osteoporosis (EOOP) is a form of osteoporosis (OP) that affects young people, and its etiologies include subclinical diseases, nutritional deficiencies, medications, or even genetic variants. We present a case of a 28-year-old woman with a history of vertebral and rib fractures immediately post partum. Although negative evaluation for secondary causes of OP, her bone densitometry showed a <i>Z</i> score of -4.7 in the lumbar spine (LS) and -3.3 both in the total hip (TH) and femoral neck (FN). Classified as very high-risk OP, anabolic treatment with teriparatide was initiated, with the addition of denosumab. At the end of this initial treatment, the patient showed partial improvement in her bone densitometry, leading to further investigation with a genetic panel. A pathogenic variant of the <i>WNT1</i> gene (Chr12:48 981 551 AC > A) was identified. Consequently, romosozumab was considered, despite its absence in the official indication for such or similar cases, due to biological plausibility since it inhibits sclerostin, an inhibitor of the WNT pathway. Finally, the patient showed significant improvement in bone densitometry, with a total increase of +42.1% in lumbar spine bone mineral density (BMD) and +16.6% in total hip BMD.

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PubMed
Published
2025-04-01
DOI
https://doi.org/10.1210/jcemcr/luaf053
Citations
1
Primary Topic
TGF-β signaling in diseases
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article
Field-Weighted Citation Impact
0.81
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article

Use of Teriparatide, Denosumab, and Romosozumab in a Postpartum Monogenic Osteoporosis With a WNT1 Pathogenic Variation.

André Silva Franco, Thiago Cavalcanti Matos, M. Dias
1 citations
PubMed
TGF-β signaling in diseases
0.81
article

Use of Teriparatide, Denosumab, and Romosozumab in a Postpartum Monogenic Osteoporosis With a WNT1 Pathogenic Variation.

André Silva Franco, Thiago Cavalcanti Matos, M. Dias
article en
1 citations

Abstract

Early-onset osteoporosis (EOOP) is a form of osteoporosis (OP) that affects young people, and its etiologies include subclinical diseases, nutritional deficiencies, medications, or even genetic variants. We present a case of a 28-year-old woman with a history of vertebral and rib fractures immediately post partum. Although negative evaluation for secondary causes of OP, her bone densitometry showed a <i>Z</i> score of -4.7 in the lumbar spine (LS) and -3.3 both in the total hip (TH) and femoral neck (FN). Classified as very high-risk OP, anabolic treatment with teriparatide was initiated, with the addition of denosumab. At the end of this initial treatment, the patient showed partial improvement in her bone densitometry, leading to further investigation with a genetic panel. A pathogenic variant of the <i>WNT1</i> gene (Chr12:48 981 551 AC > A) was identified. Consequently, romosozumab was considered, despite its absence in the official indication for such or similar cases, due to biological plausibility since it inhibits sclerostin, an inhibitor of the WNT pathway. Finally, the patient showed significant improvement in bone densitometry, with a total increase of +42.1% in lumbar spine bone mineral density (BMD) and +16.6% in total hip BMD.

PubMedVol. 3(4)
Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (BR)
Openalex Percentile: Top 30%
TGF-β signaling in diseases
0.81
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Use of Teriparatide, Denosumab, and Romosozumab in a Postpartum Monogenic Osteoporosis With a <i>WNT1</i> Pathogenic Variation. — André Silva Franco, Thiago Cavalcanti Matos, et al. · PubMed (2025) | TGRS Research Map | TGRS