Selamioğlu Arzu, Tandoğan Zelal, Balcı Mehmet Cihan, Karaca Meryem, Kozanoğlu Tuğba, Yesil Alihan, Gökçay Gülden
Istanbul University, Faculty of Medicine, Pediatric Nutrition and Metabolism Division, Istanbul, Turkey.
Bağcılar Training and Research Hospital, Division of Pediatric Metabolic Diseases, Istanbul, Turkey.
Mol Genet Metab Rep. 2024 Oct 15;41:101154. doi: 10.1016/j.ymgmr.2024.101154. eCollection 2024 Dec.
Phenylketonuria (PKU) results from a deficiency in phenylalanine hydroxylase, catalyzing the conversion of phenylalanine (Phe) to tyrosine. Premenstrual syndrome (PMS) consists of physical, behavioral, and emotional symptoms occurring during the last week of luteal phase. The aim of the study was to determine the incidence of PMS, and document menstrual cycle characteristics of PKU patients to reveal the relationship with blood Phe levels. The study was conducted on 74 patients with a mean age of 21.7 ± 5.4 years. The mean age at menarche was 12.7 ± 1.3 years and 82.4 % had regular menstrual cycles. The periods of most patients (47.2 %) lasted 4-5 days. Menstrual cycles of 21-28 days were reported by 73 %, less than 21 days by 8 %, and more than 28 days by 19 % of women. Menorrhagia and dysmenorrhea was observed in 6.7 % and 71.6 % respectively. Adherence to diet was lost in 7 patients during the menstrual period. No significant relationship was found between Phe levels and PMS symptoms ( > 0.05). According to PMSS subscales, 52.7 % of patients with PKU had depressive feelings, 16.2 % anxiety, 55.4 % fatigue, 52.7 % irritability, 28.3 % depressive thoughts, 39.1 % pain, 59.4 % changes in appetite, 28.3 % changes in sleeping habits and 43.2 % had swelling. The findings of the study revealed that PMS prevalence was 39.1 % among PKU women. Awareness about this syndrome, will improve the quality of life in women with PKU by evaluating and taking measures for PMS.
Evaluating menstrual cycle characteristics and premenstrual syndrome in phenylketonuria patients provides valuable insights for enhancing their overall health profile and personalizing treatment and management plans.
苯丙酮尿症（PKU）是由于苯丙氨酸羟化酶缺乏所致，该酶催化苯丙氨酸（Phe）转化为酪氨酸。经前综合征（PMS）由黄体期最后一周出现的身体、行为和情绪症状组成。本研究的目的是确定PMS的发生率，并记录PKU患者的月经周期特征，以揭示其与血液苯丙氨酸水平的关系。该研究对74例平均年龄为21.7±5.4岁的患者进行。初潮平均年龄为12.7±1.3岁，82.4%的患者月经周期规律。大多数患者（47.2%）的经期持续4 - 5天。73%的女性月经周期为21 - 28天，8%的女性少于21天，19%的女性超过28天。分别有6.7%和71.6%的患者出现月经过多和痛经。7例患者在月经期未坚持饮食。未发现苯丙氨酸水平与PMS症状之间存在显著关系（>0.05）。根据PMSS分量表，52.7%的PKU患者有抑郁情绪，16.2%有焦虑，55.4%有疲劳，52.7%有易怒，28.3%有抑郁想法，39.1%有疼痛，59.4%有食欲变化，28.3%有睡眠习惯改变，43.2%有肿胀。研究结果显示，PKU女性中PMS患病率为39.1%。了解这种综合征，将通过评估PMS并采取措施来改善PKU女性的生活质量。
评估苯丙酮尿症患者的月经周期特征和经前综合征，为改善其整体健康状况以及制定个性化的治疗和管理计划提供了有价值的见解。
