Lemaitre Madleen, Picart Clotilde, Gueorguieva Iva, Charbit Judith, Edouard Thomas, Linglart Agnès, Luton Dominique, Chanson Philippe
Service d'endocrinologie, diabétologie, métabolisme, nutrition, hôpital Huriez, institut génomique européen pour le diabète, université de Lille, CHU de Lille, 59000 Lille, France.
Service de gériatrie, hôpital Ambroise-Paré, AP-HP, Boulogne-Billancourt, France.
Ann Endocrinol (Paris). 2025 Feb;86(1):101696. doi: 10.1016/j.ando.2025.101696. Epub 2025 Jan 14.
Primary hyperparathyroidism is rare in children. A germline mutation is identified in half of all children with primary hyperparathyroidism (70% of newborns and infants, and 40% of children and adolescents). The clinical manifestations of primary hyperparathyroidism in children are highly variable (often absent in newborns, rather severe and symptomatic in children and adolescents) and depend on the genetic cause, as well as the severity, rapidity of onset and duration of hypercalcemia. Morphological investigation and treatment of children and adolescents follow the same rules as for adults. Surgery must be carried out by a surgeon expert in this pathology in children. Primary hyperparathyroidism is rarely diagnosed during pregnancy. Pregnancy-related changes in phosphocalcic homeostasis can sometimes mask its symptomatology, which explains why it is most often asymptomatic and/or undiagnosed due to low levels of hypercalcemia and/or the attribution of certain symptoms (e.g. vomiting) to pregnancy itself. Maternal-fetal morbidity associated with primary hyperparathyroidism during pregnancy, historically considered significant, is in fact rare and depends on maternal calcium levels. Treatment (conservative or surgical) must be adapted to the term of pregnancy, the severity of symptoms and maternal-fetal risks. Primary hyperparathyroidism is common in the elderly. Although the diagnostic approach is comparable to that in younger patients, some clinical specificities of this population need to be considered. In view of the high prevalence of osteoporotic fractures and their consequences for morbidity and mortality in the elderly, surgery is the preferred option in case of osteoporosis. In 2024, the neuropsychological symptoms and cardiovascular impairment associated with primary hyperparathyroidism do not justify parathyroidectomy. Parathyroidectomy is much less frequent than in the younger population, although it remains the first-line treatment, especially as its safety and efficacy have been widely demonstrated.
原发性甲状旁腺功能亢进在儿童中较为罕见。在所有原发性甲状旁腺功能亢进的儿童中，有一半可检测到种系突变（新生儿和婴儿中占70%，儿童和青少年中占40%）。儿童原发性甲状旁腺功能亢进的临床表现差异很大（新生儿通常无临床表现，儿童和青少年则症状较为严重且有明显症状），其取决于遗传病因以及高钙血症的严重程度、发病速度和持续时间。儿童和青少年的形态学检查及治疗遵循与成人相同的原则。手术必须由擅长儿童该病症的外科医生进行。原发性甲状旁腺功能亢进在孕期很少被诊断出来。孕期钙磷稳态的变化有时会掩盖其症状，这就解释了为什么它常常无症状和/或因高钙血症水平低和/或某些症状（如呕吐）被归因于妊娠本身而未被诊断出来。历史上认为孕期原发性甲状旁腺功能亢进相关的母婴发病率较高，实际上却很罕见，且取决于母亲的钙水平。治疗（保守或手术）必须根据孕周、症状严重程度和母婴风险进行调整。原发性甲状旁腺功能亢进在老年人中很常见。尽管诊断方法与年轻患者类似，但需要考虑该人群的一些临床特点。鉴于骨质疏松性骨折在老年人中的高发病率及其对发病率和死亡率的影响，对于骨质疏松患者，手术是首选方案。2024年，与原发性甲状旁腺功能亢进相关的神经心理症状和心血管损害并不足以成为甲状旁腺切除术的理由。甲状旁腺切除术的频率远低于年轻人群，尽管它仍然是一线治疗方法，尤其是因为其安全性和有效性已得到广泛证实。
