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Neurofibromatosis with Vulvar Involvement and Retarded Sexual Development: A Case Report
Gecikmiş Seksüel Gelişimi Ve Vulvar Tutulumu Olan Nörofibromatozis: Vaka Takdimi
Seyide KARA SOYSAL*, Mehmet Emin SOYSAL, Selim ŞENÖZ***, Ahmet Zeki IŞIK****, Bülent GÜLEKLİ*****, Oya GÖKMEN******
*Assist.of Obst. ? Gynecology, now in Pamukkale University, Medical Faculty**, Assoc.of Obst. ? Gynecology, now in Pamukkale University, Medical Faculty, DENİZLİ***Now Obstetrician and Gynecologist in Sevgi Private Hospital****, Obstetrician and Gynecologist in Zekai Tahir Burak Womens Hospital, ANKARA***** Assoc.of Obst. ? Gynecology, now in 9 Eylül University Medical Faculty, İZMİR ****** Assoc.of Obst. ? Gynecology in Zekai Tahir Burak Womens Hospital, ANKARA
Turkiye Klinikleri J Gynecol Obst. 1997;7(2):113-6
Article Language: TR
Copyright Ⓒ 2024 by Türkiye Klinikleri. This is an open access article under the CC BY-NC-ND license (
http://creativecommons.org/licenses/by-nc-nd/4.0/)
ÖZET
Amaç: Nörofibromatozis hastalığının vulvayı, iskelet sistemini içine alan ve hipogonadotropizme neden olan seyrek bir tipi ve bu konudaki literatür derlemesi sunmak. Çalışmanın yapıldığı yer: Ankara Dr. Zekai Tahir Burak Kadın Hastanesi. Materyel ve Metod: Reprodüktif Endokrinoloji Kliniğimize başvuran 19 yaşında, göğüslerde gelişme geriliği ve sol vulvada kitlesi olan bir genç kız. Bulgular: Vulvadaki kitlenin patolojik incelenmesi nörofibrom olduğunu gösterdi. Ayrıca vücut röntgenleri uzun kemiklerde kistler ve eğri bir koksiks saptandı. Estradiol ve gonadotropinleri hipoganodotropik limitlerdeydi. Sonuç: Bu konuda ilginç olan şudur ki, nöral çıkıntıdan köken alan, ilk olarak 1882'de von Recklinghausen tarafından bildirilen bu hamartomatöz bozukluk, bildirilen vakadan farklı olarak genelde geri kalmış seksüel gelişme yerine erken puberteye neden olmaktadır. Bu hasta hipogonadotropizmle (seyrek olarak görülür) birlikte nörofibromatozis (pelvik ve iskelet tutulumu mevcut olan) olarak kabul edildiği için malign dejenerasyon yönünden kontrol altındadır.
ABSTRACT
Objective: To peresent a rare from of neurofibromatosis involving the vulva, skeletal system and causing hypogonadotropism and the literature review about it. Institution: This study was held in Ankara Dr. Zekai Tahir Burak Women's Hospital. Material and Method: A 19 year old girl who applied to our Reproductive Endocrinology Clinic with a history of breast underdevelopment and a left vulvar mass. Results: Vulvar mass was found to be a neurofibroma. Whole body X-rays revealed cysts at long bones and a deviated coccyx. This patient was found to have estradiol and gonadotrophins in hypogonadotrophic range. Conclusion: What interesting is that this hamartamatous disorder, which arises from neural crest and has been described by von Recklinghausen in 1882 first, is different from this particular case where retarded sexual development occurs, usually appears as precocious puberty. As this patient has hypogonadotropism, she is under hormone replacement treatment, until she may have infertility problems. As the patient was considered a neurofibromatosis case (pelvic and skeletal involvement) with hypogonadotrophism (which occurs very rarely), she is now under periodic control for the risk of malignant degeneration.