Ovarian teratomas in a patient with Bardet-Biedl syndrome, a rare association.
Bardet-Biedl syndrome (BBS) represents a rare ciliopathy recessive autosomal inherited. The main clinical features are retinal dystrophy, postaxial polydactyly, obesity, different degrees of cognitive deficit, renal impairment, hypogonadism and genital malformations. The genetic explanation consists in BBS genes mutations, which encode modified proteins, altering the function of the immotile cilia. As a multitude of BBS genes mutations were described, the phenotypic aspect of these disorders varies according to that. We present the case of a 22 years old female patient, known with BBS since the age of 11 and which was diagnosed and operated for bilateral ovarian dermoid cysts, at the age of 21. We did not find a similar case in literature, regarding the association between the two disorders. We consider that our case points towards the importance of periodic imagistic evaluations [magnetic resonance imaging (MRI), computed tomography (CT) or ultrasound] of these patients, not only clinical and biological. Usually, the moment they are diagnosed with hypogonadism or genital malformations (in childhood or adolescence), the genital evaluation is neglected thereafter. We also consider that our therapeutic approach can be helpful in other similar clinical situations. Another important conclusion is represented by the importance of genetic counseling of the relatives of a BBS patient, unfortunately insufficiently provided in our region.
Department of Obstetrics and Gynecology, Faculty of Medicine, "Ovidius" University, University Regional Emergency Hospital, Constanta, Romania; vtica@eeirh.org.
Irina
I
Tica
Oana Sorina
OS
Tica
Alina Doina
AD
Nicoară
Vlad Iustin
VI
Tica
Andrei Adrian
AA
Tica
D000328:Adult; D020788:Bardet-Biedl Syndrome / Q000150:complications* / Q000473:pathology; D005260:Female; D006801:Humans; D010051:Ovarian Neoplasms / Q000209:etiology* / Q000473:pathology; D013724:Teratoma / Q000209:etiology* / Q000473:pathology; D055815:Young Adult