Sjöström Anna, Pellikaan Karlijn, Sjöström Henrik, Goldstone Anthony P, Grugni Graziano, Crinò Antonino, De Graaff Laura C G, Höybye Charlotte
Department of Clinical Chemistry, Karolinska University Hospital, 171 76 Stockholm, Sweden.
Department of Molecular Medicine and Surgery, Karolinska Institutet, 171 76 Stockholm, Sweden.
J Clin Med. 2021 Aug 16;10(16):3613. doi: 10.3390/jcm10163613.
Prader-Willi syndrome (PWS) is a rare neurodevelopmental genetic disorder typically characterized by body composition abnormalities, hyperphagia, behavioural challenges, cognitive dysfunction, and hypogonadism. Psychotic illness is common, particularly in patients with maternal uniparental disomy (mUPD), and antipsychotic medications can result in hyperprolactinemia. Information about hyperprolactinemia and its potential clinical consequences in PWS is sparse. Here, we present data from an international, observational study of 45 adults with PWS and hyperprolactinemia. Estimated prevalence of hyperprolactinemia in a subset of centres with available data was 22%, with 66% of those related to medication and 55% due to antipsychotics. Thirty-three patients were men, 12 women. Median age was 29 years, median BMI 29.8 kg/m, 13 had mUPD. Median prolactin was 680 mIU/L (range 329-5702). Prolactin levels were higher in women and patients with mUPD, with only 3 patients having severe hyperprolactinemia. Thyroid function tests were normal, 24 were treated with growth hormone, 29 with sex steroids, and 20 with antipsychotic medications. One patient had kidney insufficiency, and one a microprolactinoma. In conclusion, severe hyperprolactinemia was rare, and the most common aetiology of hyperprolactinemia was treatment with antipsychotic medications. Although significant clinical consequences could not be determined, potential negative long-term effects of moderate or severe hyperprolactinemia cannot be excluded. Our results suggest including measurements of prolactin in the follow-up of adults with PWS, especially in those on treatment with antipsychotics.
普拉德-威利综合征（PWS）是一种罕见的神经发育性遗传疾病，其典型特征为身体成分异常、食欲亢进、行为问题、认知功能障碍和性腺功能减退。精神病性疾病很常见，尤其是在母源单亲二倍体（mUPD）患者中，抗精神病药物可导致高催乳素血症。关于PWS患者高催乳素血症及其潜在临床后果的信息很少。在此，我们展示了一项针对45例患有PWS和高催乳素血症的成年人的国际观察性研究的数据。在有可用数据的部分中心，高催乳素血症的估计患病率为22%，其中66%与药物有关，55%是由抗精神病药物引起的。33例患者为男性，12例为女性。中位年龄为29岁，中位体重指数为29.8kg/m²，13例有mUPD。中位催乳素水平为680mIU/L（范围为329 - 5702）。女性和mUPD患者的催乳素水平较高，只有3例患者患有严重高催乳素血症。甲状腺功能检查正常，24例接受生长激素治疗，29例接受性激素治疗，20例接受抗精神病药物治疗。1例患者有肾功能不全，1例有微泌乳素瘤。总之，严重高催乳素血症很少见，高催乳素血症最常见的病因是抗精神病药物治疗。虽然无法确定显著的临床后果，但不能排除中度或重度高催乳素血症潜在的长期负面影响。我们的结果表明，在对PWS成年患者进行随访时应包括催乳素测量，尤其是对接受抗精神病药物治疗的患者。
