Τίτλος:
External genitalia hypertrophy in an adolescent girl with Sanfilippo syndrome
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
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. © 2016 The European Society of Contraception and Reproductive Health.
Συγγραφείς:
Bacopoulou, F.
Apostolaki, D.
Pons, R.
Περιοδικό:
The European Journal of Contraception and Reproductive Health Care
Εκδότης:
Taylor and Francis Ltd.
Λέξεις-κλειδιά:
alpha n acetylglucosaminidase; glycosaminoglycan; heparan sulfate, anxiety; Article; case report; child; connective tissue; disease exacerbation; echography; facies; female; gene mutation; gynecologic disease; gynecological examination; hair disease; hirsutism; human; hygiene; hymen; hyperactivity; hypertrophy; maternal attitude; menstruation; neck malformation; patient counseling; perineum; priority journal; problem behavior; quality of life; reassurance; Sanfilippo syndrome; school child; complication; hypertrophy; metabolism; pathology; Sanfilippo syndrome; vagina; vulva, Child; Female; Heparitin Sulfate; Humans; Hypertrophy; Mucopolysaccharidosis III; Perineum; Vagina; Vulva
DOI:
10.1080/13625187.2016.1217987
