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1.
J Clin Med ; 12(12)2023 Jun 20.
Artigo em Inglês | MEDLINE | ID: mdl-37373840

RESUMO

The trabecular bone score (TBS) can be determined in addition to the Dual Energy X-ray Absorptiometry (DXA) for bone mineral density (BMD) measurement to diagnose, evaluate, and stratify bone loss and decide on appropriate treatment in patients at risk. Especially in patients with secondary osteoporosis, TBS detects restricted bone quality. To investigate the influence of an additional evaluation of TBS on patients' treatment strategy decisions, we enrolled 292 patients, with a high proportion of patients with secondary osteoporosis, from one outpatient unit over one year. Patients eligible for BMD measurement had the option to opt-in for TBS measurement. We analyzed demographic data, leading diagnoses, bone metabolism parameters, and results of BMD and TBS measurements. More than 90% of patients consented to TBS measurement. TBS measurement influenced the decision in approximately 40% of patients with a treatment indication for anti-osteoporotic drugs. We demonstrate that depending on the underlying disease/risk spectrum, 21-25.5% of patients had an unremarkable BMD measurement with poor bone quality shown in the TBS measurement. In patients with secondary osteoporosis, the use of TBS supplementary to DXA seems useful to better assess fracture risk and, thus, to initiate therapy for osteoporosis in these patients in time.

2.
Clin Exp Rheumatol ; 41(7): 1434-1442, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-36622109

RESUMO

OBJECTIVES: Oestrogen deficiency is a rare disease and leads inter alia to arthralgia and osteoporosis in men. The clinical relevance of aromatase to a functioning male metabolism has become evident since 1991, when cases of patients with oestrogen deficiency caused by aromatase mutation were first described. Only few cases are known so far, which will now be presented in a case report and review of the literature. METHODS: All available publications since the first description in 1991 dealing with loss-of-function aromatase mutation in men were summarised and our case report was added. RESULTS: The mutations that cause the aromatase protein to lose function leads to a rather heterogeneous clinical picture. It is, however, clear that oestrogens play a central role in male patients, especially in bone metabolism. Most frequently, tall stature, unclosed epiphyseal joints, and osteoporosis are detected in affected individuals as a consequence of the change in hormonal status. CONCLUSIONS: As low oestrogen is associated with arthralgia, patients with aromatase mutation may be referred to a rheumatologist. Despite aromatase deficiency being a rare disease, the study of the effects of oestrogen on male bone development provides important insights for endocrine bone regulation. It has been demonstrated that androgens alone are not sufficient for adequate skeletal development in males. The described effects of loss of oestrogens are known from the aromatase inhibitor therapy in breast cancer treatment. This work highlights the important role of oestrogens in individual health and disease in men. Molecular effects of oestrogens on bone metabolism are summarised.


Assuntos
Aromatase , Osteoporose , Humanos , Masculino , Aromatase/genética , Aromatase/metabolismo , Doenças Raras , Estrogênios , Osteoporose/tratamento farmacológico , Osteoporose/genética , Mutação
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