Ovarian masses in children and adolescents: Analysis on 146 patients.

PURPOSE: Ovarian masses in pediatric population are the most common genital neoplasms, and these masses are often benign. The purpose of this study is to evaluate the pediatric ovarian masses operated in our hospital. METHOD: The records of patients, under the age of 18 who were operated in our hospital due to ovarian mass between 2012 and 2018 were reviewed retrospectively. Clinical findings, operational procedures, histopathologies, tumor markers and radiological images were evaluated. FINDINGS: During the study, 146 patients (5 patients were bilateral) were evaluated. The average age of the study patients was 14.01 ± 4.02 years. 107 of the study patients were benign, 37 were malignant and 2 were borderline. The most common symptom in benign masses was tenderness in lower abdominal (75.7 %). 124 of the patients (86.1 %) were in post-menarche period. 34 of the patients had ovarian torsion. Open surgery was conducted on 79.5 % (116/146) of the patients, and laparoscopic surgery was conducted on 20.5 % (30/146). The rate of oophorectomy was 24.6 % (36/146) throughout the operations. The most frequently conducted surgical procedure was cyst excision in benign masses and oophorectomy in malignant masses. In neoplastic masses, the ratio of pelvic mass palpation; and in non-neoplastic masses, lower abdominal tenderness was more apparent. The rate of ovarian torsion was 23.6 % (25/107) in benign masses and 24.3 % (9/37) in malignant masses. OUTCOMES: Pediatric and adolescent ovarian masses are mostly benign and majority of these occur at post-menarche period. The most common symptom was pelvic tenderness in benign masses, and palpable pelvic masses in malignant masses. For future fertility and low incidence of malignancy in these patients, ovarian preserving surgery should be considered for the first operation.

A Novel Variant in Triple A Syndrome.

Triple A syndrome is an autosomal recessive inherited multisystem disorder that was first described in 1978. Triple A syndrome has a high genotypic and phenotypic heterogeneity and has been linked with mutations in the AAAS gene, which has been identified on chromosome 12q13. A 14 years old male patient applied to outpatient clinic complaining of weakness and darkening of skin color since 4 months. On physical examination hyperpigmentation was observed on both the skin and mucosa. The morning cortisol level was 1.8 µg/dL and ACTH was >1250 ng/L. Schirmer test showed absence of tears. In the patient's esophagoscopy, mucosal paleness and stenosis of the cardia were observed. Molecular genetic analysis of AAAS gene confirmed the diagnosis of triple A syndrome caused by homozygous mutation: c.1368_1372delGCTCA (p.Gln456HisfsTer38). This variant is considered to be a possible pathogenic because it causes a frame shift that changes the protein structure. As a result of the genetic analysis of the patient's parents, the AAAS gene was detected as heterozygous in both parents for the c.1368_1372delGCTCA mutation. To the best of our knowledge, this is the first report of homozygous mutation: c.1368_1372delGCTCA (p.Gln456HisfsTer38).