Whyte M P
Department of Medicine, Jewish Hospital of St. Louis, Washington University Medical Center, Missouri.
Endocrinol Metab Clin North Am. 1990 Mar;19(1):133-73.
Endocrinologists may be challenged not only by the great diversity of rare heritable metabolic bone diseases, but also by an unusual array of genetically transmitted skeletal dysplasias. The striking impact that many such skeletal dysplasias have on bone leads physicians naturally to question whether there is a metabolic component that might respond to mineral or hormonal therapy. Indeed, overt derangements in mineral or hormonal therapy. Indeed, overt derangements in mineral homeostasis occur, and a few do respond to medical treatment. Accordingly, some skeletal dysplasias do "bridge the gap" with the disorders that are traditionally regarded as metabolic in origin. The skills of the endocrinologist may be called on for either group of patients.
内分泌学家不仅可能面临各种罕见的遗传性代谢性骨病的挑战，还可能面临一系列不同寻常的遗传性骨骼发育不良。许多此类骨骼发育不良对骨骼产生的显著影响，自然会让医生质疑是否存在可能对矿物质或激素治疗有反应的代谢成分。事实上，矿物质稳态确实会出现明显紊乱，而且有一些确实对医学治疗有反应。因此，一些骨骼发育不良确实与传统上被认为起源于代谢性的疾病“架起了桥梁”。这两类患者都可能需要内分泌学家的专业技能。
