Department of Endocrine Oncology, University Medical Center Utrecht, Utrecht, The Netherlands.
Department of Pediatric Endocrinology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.
Clin Endocrinol (Oxf). 2021 Sep;95(3):453-459. doi: 10.1111/cen.14536. Epub 2021 Jul 12.
Multiple endocrine neoplasia 2B (MEN2B) is characterised by early-onset medullary thyroid carcinoma (MTC), pheochromocytoma and several nonendocrine manifestations. Unfortunately, MEN2B is often diagnosed late, after the development of clinically significant MTC. Marfanoid habitus is considered an important related feature, which may lead to the assumption that patients with MEN2B have tall stature. Here, we describe the longitudinal growth and body proportions of eight MEN2B patients during childhood.
It is a retrospective case series.
Patients were under the care of a Dutch MEN expertise centre. Growth patterns were assessed and interpreted in relation to body mass index (BMI), age at diagnosis and at thyroidectomy, extensiveness of disease manifestations and parental height.
Seven patients were short during childhood, of whom four showed growth below target height range (THR) and three at the lowest margin of THR. Only one patient grew well within THR. All patients who attained final height (n = 4) ended within THR, despite short stature during childhood. Arm span/height ratio was not increased and upper segment/lower segment ratio was not reduced in any patient. Short stature in childhood in this study did not seem to be associated with age at diagnosis, age at thyroidectomy, extensiveness of MTC, endocrine deficiencies or BMI.
This study shows that children with MEN2B may well present with short rather than tall stature. Thereafter, final height within THR was attained in those who already reached adulthood, but none had tall stature. Finally, body proportions were normal in all children and adults in this case series, not underlining a 'marfanoid' body habitus.
多发性内分泌肿瘤 2B 型（MEN2B）的特征是早发的甲状腺髓样癌（MTC）、嗜铬细胞瘤和多种非内分泌表现。不幸的是，MEN2B 通常在出现有临床意义的 MTC 后才被确诊，此时已为时过晚。马凡样体型被认为是一个重要的相关特征，这可能导致人们认为 MEN2B 患者身材高大。在此，我们描述了 8 例 MEN2B 患者在儿童期的纵向生长和身体比例。
这是一项回顾性病例系列研究。
患者由荷兰 MEN 专业中心进行诊治。评估并解释了生长模式，与体重指数（BMI）、诊断和甲状腺切除术时的年龄、疾病表现的广泛性以及父母身高有关。
7 例患者在儿童期身材矮小，其中 4 例生长低于靶身高范围（THR），3 例接近 THR 的最低边缘。仅有 1 例患者在 THR 内生长良好。所有达到最终身高的患者（n=4）尽管在儿童期身材矮小，但最终都在 THR 内。没有患者的臂展/身高比增加，也没有患者的上半身/下半身比例降低。本研究中儿童期的身材矮小似乎与诊断时的年龄、甲状腺切除术时的年龄、MTC 的广泛性、内分泌缺乏或 BMI 无关。
本研究表明，MEN2B 患儿可能表现为身材矮小，而不是身材高大。此后，那些已经成年的患者达到了 THR 内的最终身高，但没有人身材高大。最后，在本病例系列中，所有儿童和成年人的身体比例均正常，不强调“马凡样”体型。
