External genitalia hypertrophy in an adolescent girl with Sanfilippo syndrome

Abstract

Objective: To report unusual gynaecological features associated with Sanfilippo syndrome, a rare progressive multisystem storage disorder.

Case: A 10-year-old adolescent girl with Sanfilippo syndrome type B, presented to the Center for Adolescent Medicine accompanied by her mother. Maternal anxiety was related to a palpable mass over the adolescent’s external genitalia that had been causing her discomfort and exacerbation of her behavioural problems when wearing trousers. The mass was also a site of blood accumulation during her menstruation causing hygiene issues. Gynaecological examination revealed hypertrophy and thickening of the adolescent’s hymen, labia minora and the posterior fourchette, that protruded like a mass in her perineum. These findings were attributed to the accumulation of heparan sulphate in the connective tissue of her external genitalia and perineal area. Reassurance as well as counselling about hygiene and avoidance of tight clothes were provided to the mother.

Conclusion: Girls with mucopolysaccharidoses need monitoring for evolving gynaecological problems in order to improve their quality of life.

Chinese abstract

目的: 有关圣菲利波综合征患者合并妇科异常特征的报导罕见, 一种进行性多系统储存功能障碍。

病例: 一个患有B型圣菲利波综合征的10岁的青春期女孩, 在她母亲的陪伴下出现在青春期医学中心。让这个母亲焦虑的是这个女孩外阴触及了肿块导致她不适而且当她穿裤子时加重了行动的困难。在月经期月经血积聚在这个肿块会导致卫生问题。妇科检查发现了这个女孩处女膜、小阴唇和后阴唇联合的增厚和肥大, 这些在她的会阴部像一个肿块样突起。这些表现源于硫酸乙酰肝素在外阴和会阴部结缔组织的堆积。建议女孩的母亲注意卫生并且避免紧身衣裤。

小结: 为提高患有粘多糖增多症女孩的生活质量, 她们需要监护以避免发生妇科问题的进展。

Keywords:

• Sanfilippo syndrome
• mucopolysaccharidosis
• adolescents
• external genitalia hypertrophy
• chronic diseases
• quality of life

Disclosure statement

The authors have no conflicts of interest to disclose. The authors are responsible for the choice and presentation of views contained in this article and for opinions expressed therein, which are not necessarily those of United Nations Educational, Scientific and Cultural Organization (UNESCO) and do not commit the organization.