Prevalence of X-aneuploidies, X-structural abnormalities and 46,XY sex reversal in Turkish women with primary amenorrhea or premature ovarian insufficiency.

Our objective was to identify the distribution of cytogenetic abnormalities of 175 Turkish women with primary amenorrhea (PA) or premature ovarian insufficiency (POI). A retrospective study was performed using medical records of 94 patients with PA and 81 patients with POI at the Genetics Department, Zeynep Kamil Women's and Children's Research and Training Hospital, Istanbul, Turkey. G-banded metaphase karyotype analysis were prepared and analyzed. Chromosomal abnormalities were present in 44 of 175 cases (25%). 15 were full blown or mosaic numerical X chromosome abnormalities (8.5%), 10 were full blown or mosaic X-chromosome structural anomalies (5.7%), one was X-autosome translocation (0.5%), 3 were autosomal anomalies (1.7%), 12 were XY karyotype (6.8%), one was 45,X/46,XY mosaic and 2 were full blown or mosaic structural anomalies of Y chromosome (1.7%). The prevalence of chromosomal abnormalities was 25% in this large series of Turkish women with primary amenorrhea or premature ovarian insufficiency, most cases involving X-aneuploidy or X-structural abnormalities or 46,XY karyotype. High prevalence of chromosomal abnormalities is associated with POI starting at an early age (average age: 26 years).

Giant fibrovascular polyp of the hypopharynx: per-oral endoscopic removal.

OBJECTIVE: We report an extremely rare case of giant fibrovascular polyp of the hypopharynx. METHOD: We present a 49-year-old man who had increasing difficulty swallowing, advanced respiratory distress and weight loss, as well as a hypopharyngeal mass protruding from his mouth. RESULTS: Diagnosis was confirmed by endoscopic examination and computed tomography. A tracheostomy was required due to laryngeal obstruction by the regurgitated mass. The giant polyp was removed via per-oral endoscopic excision under general anaesthesia. CONCLUSION: Fibrovascular polyps occur most commonly in the cervical oesophagus, and are extremely rare in the hypopharynx. They can grow to a very large size over several years. We discuss the symptoms, diagnosis and surgical treatment techniques for upper aerodigestive tract fibrovascular polyps, in the light of the literature.

Evaluation of the roles of serum vitamin B(12), folate and homocysteine levels in laryngeal squamous cell carcinoma.

Metabolic changes in head and neck carcinogenesis are often non-specifically correlated with carcinomas. The study of metabolic disorders can improve the understanding of tumourigenesis at the cellular level. This study was designed to evaluate the role of serum homocysteine, folate, and vitamin B(12) levels in the pathogenesis of laryngeal squamous cell cancer (LSCC) by measuring serum levels in 60 consecutive untreated patients with LSCC and 60 controls (30 smokers and 30 non-smokers). Compared with smoker and non-smoker control groups, significantly lower levels of vitamin B(12) were found in patients with LSCC. Folate levels in patients with LSCC were also significantly lower than in the smoker and non-smoker control groups. There were no significant differences in the homocysteine levels between these three groups. Metabolic alterations in vitamin B(12) and folate levels, particularly hypofolataemia, could be associated with the development of LSCC, although further research is required to confirm their roles definitively.

Second trimester choroid plexus cysts and trisomy 18.

OBJECTIVES: In this study, the aims were to reveal the incidence of isolated choroid plexus cyst in our population, and to discuss the accuracy of distinguishing either an isolated or non-isolated choroid plexus cyst. METHODS: The study population was consisted of 10594 pregnant women. The patients with choroid plexus cysts were classified into two groups: isolated and non-isolated. Detailed ultrasonographic examination and genetic counseling were performed and triple screening test was ordered. The incidence, sensitivity, specificity, false-positive rate and likelihood ratio of cases with isolated choroid plexus cyst for trisomy 18 were determined. RESULTS: Choroid plexus cysts were identified in 109 patients (109/10594; 1.02%). In 102 patients isolated choroid plexus cysts, and in seven patients additional fetal anomalies supporting trisomy 18 were detected. Trisomy 18 was detected in four patients, and one of them had isolated choroid plexus cyst. The likelihood ratio in cases of isolated choroid plexus cysts for trisomy 18 was 9.51 (95% confidence interval, 0.2-41). CONCLUSIONS: According to the study the individual risk for trisomy 18 in isolated choroid plexus cyst should be calculated by using the likelihood ratio. These data allows the physician to express the individual risk of trisomy 18 and permits more accurate genetic counseling.

Basal hormone levels in women with recurrent pregnancy loss.

The potential role of endocrine abnormalities during the follicular phase in women with unexplained recurrent pregnancy loss was investigated in a retrospective study. Eighty women with recurrent pregnancy loss underwent routine work-up to exclude known associations with the condition. Following investigation, 58 women failed to reveal an identifiable cause, and were therefore classified as having unexplained recurrent pregnancy loss. The control group consisted of women with known causes of abortions, such as uterine septum and parental chromosomal abnormalities. Mean age, gravidity, parity, presence of infertility, previous number of miscarriages and duration of marriage were similar in both groups. Day-3 serum levels of follicle stimulating hormone (FSH), estradiol, luteinizing hormone (LH) prolactin, total testosterone, dehydroepiandrosterone sulfate (DHEAS) and thyroid stimulating hormone (TSH) were compared in the two groups. FSH, estradiol, LH, prolactin and DHEAS concentrations were significantly higher in the unexplained recurrent pregnancy loss group than in the explained recurrent pregnancy loss group, although serum concentrations of all hormones were within the normal range (p < 0.01). TSH and total testosterone levels were similar in the two groups (p > 0.05). There were no differences in the frequency of abnormal levels of hormones between the two groups (p > 0.05). We conclude that endocrine abnormalities in the follicular phase are not associated with recurrent pregnancy loss.

Bilateral abortive cryptophthalmos associated with oculocutaneous albinism.

PURPOSE: To document a case of bilateral abortive cryptophthalmos associated with oculocutaneous albinism. METHODS: We describe a 13-year-old female patient with blond skin and hair who had anomalous face and eyes first noted at birth. RESULTS: The patient had fair hair and complexion, bilateral anomalous wedge of scalp hair, upper eyebrow and eyelid deformities, cup-shaped ears, broad based nose with depressed bridge and midline groove, iris transillumination and diffuse hypopigmentation and foveal hypoplasia in fundus examination. CONCLUSION: Based on the clinical and laboratory findings, the reported case represents tyrosinase-positive oculocutaneous albinism together with bilateral abortive cryptophthalmos. The oculocutaneous albinism can either be an entirely new criterion to the whole syndrome of cryptophthalmos, or, more probably, the condition can be due to a double affliction which is primarily related with consanguinity of the parents. The importance of ante-natal diagnosis and genetic counseling are emphasized in such cases where the two recessive genes for two different conditions coexist.