Assistance Publique Hôpitaux de Marseille, Hôpital la Timone, service de pédiatrie multidisciplinaire, Centre de Référence des Maladies Rares d'Origine Hypophysaire HYPO, Marseille, France.
Assistance Publique-Hôpitaux de Paris, Université Paris-Saclay, Hôpital Bicêtre, service d'Endocrinologie et diabète de l'enfant, Le Kremlin Bicêtre, France; INSERM UMR 1018, Equipe d'épidémiologie des radiations, CESP, 94800 Villejuif, France.
Arch Pediatr. 2024 Apr;31(3):165-171. doi: 10.1016/j.arcped.2024.01.003. Epub 2024 Mar 27.
Hypopituitarism (or pituitary deficiency) is a rare disease with an estimated prevalence of between 1/16,000 and 1/26,000 individuals, defined by insufficient production of one or several anterior pituitary hormones (growth hormone [GH], thyroid-stimulating hormone [TSH], adrenocorticotropic hormone [ACTH], luteinizing hormone [LH], follicle-stimulating hormone [FSH], prolactin), in association or not with diabetes insipidus (antidiuretic hormone [ADH] deficiency). While in adults hypopituitarism is mostly an acquired disease (tumors, irradiation), in children it is most often a congenital condition, due to abnormal pituitary development. Clinical symptoms vary considerably from isolated to combined deficiencies and between syndromic and non-syndromic forms. Early signs are non-specific but should not be overlooked. Diagnosis is based on a combination of clinical, laboratory (testing of all hormonal axes), imaging (brain magnetic resonance imaging [MRI] with thin slices centered on the hypothalamic-pituitary region), and genetic (next-generation sequencing of genes involved in pituitary development, array-based comparative genomic hybridization, and/or genomic analysis) findings. Early brain MRI is crucial in neonates or in cases of severe hormone deficiency for differential diagnosis and to inform syndrome workup. This article presents recommendations for hormone replacement therapy for each of the respective deficient axes. Lifelong follow-up with an endocrinologist is required, including in adulthood, with multidisciplinary management for patients with syndromic forms or comorbidities. Treatment objectives include alleviating symptoms, preventing comorbidities and acute complications, and optimal social and educational integration.
垂体功能减退症（或垂体功能不足）是一种罕见疾病，其估计患病率为每 16000 至 26000 人中有 1 例，其定义为一种或多种垂体前叶激素（生长激素[GH]、促甲状腺激素[TSH]、促肾上腺皮质激素[ACTH]、黄体生成素[LH]、卵泡刺激素[FSH]、催乳素）的产生不足，同时或不伴有尿崩症（抗利尿激素[ADH]缺乏）。虽然在成年人中，垂体功能减退症大多是一种获得性疾病（肿瘤、放疗），但在儿童中，它主要是一种先天性疾病，由于垂体发育异常所致。临床表现从单纯性缺乏到联合性缺乏，以及从综合征性和非综合征性形式，差异很大。早期症状是非特异性的，但不应被忽视。诊断基于临床、实验室（所有激素轴的检测）、影像学（脑磁共振成像[MRI]，以下丘脑-垂体区域为中心的薄层切片）和遗传学（参与垂体发育的基因的下一代测序、基于阵列的比较基因组杂交和/或基因组分析）发现的综合判断。早期脑 MRI 对新生儿或严重激素缺乏症的病例非常重要，有助于鉴别诊断和进行综合征检查。本文针对每个相应缺乏的轴，提出了激素替代治疗的建议。需要内分泌医生进行终身随访，包括成年后的随访，对于综合征形式或合并症患者，需要进行多学科管理。治疗目标包括缓解症状、预防合并症和急性并发症以及实现最佳的社会和教育融合。
