Clitoromegaly in type 2 neurofibromatosis: a case report and review of the literature

OBJECTIVE: Genitourinary neurofibromatosis (NF) is a rare disorder and clitoral involvement has been reported infrequently. In the English literature there are only 26 reported cases with clitoral involvement in NF. CASE: A 28-year-old female with clitoral enlargement, previously diagnosed with NF 2, was successfully treated by removal of the clitoral mass that increased in size during the previous two years. Clitoroplasty was performed while preserving the glans of clitoris. Histopathologic examination revealed plexiform neurofibroma. CONCLUSION: To the best of our knowledge the patient is the 27th reported clitoromegaly case with NF, but the first case reported with NF 2 or central NF in the English literature.     

Transvaginal sonography combined with saline contrast sonohysterography to evaluate the uterine cavity in patients with abnormal uterine bleeding and postmenopausal endometrium more than 5 mm

OBJECTIVES: To determine whether saline contrast sonohysterography (SCSH) gives additional information to that obtained by transvaginal sonography (TVS) for predicting endometrial abnormality in premenopausal, menopausal and postmenopausal patients with abnormal uterine bleeding and postmenopausal patients with endometrial thickness > 5 mm. METHODS: This was a prospective study at the Ege University Obstetrics and Gynecology Clinic in Izmir, Turkey. Patients presenting with abnormal bleeding related to uterine pathologies, postmenopausal patients with endometrial thickness more than 5 mm and scheduled for surgical treatment were prospectively included in our study conducted between 1 July, 2000 and 31 January, 2002. The uterine cavity was first evaluated with TVS in 53 premenopausal, menopausal, postmenopausal patients with abnormal uterine bleeding and postmenopausal patients whose endometrial thickness was > 5 mm measured by conventional ultrasound examination. SCSH was carried out later with the intention of establishing further surgical management (hysterectomy). Twenty of the patients had operative hysterectomy within the 1.5 year period of time. The presence of focally growing lesions and the type of lesion (endometrial polyp, submucous myoma, malignancy or unclear focal lesion) were noted at ultrasound examination and at hysteroscopy, and then hysterectomy material was examined by Ege University's Pathology Department which provided a detailed evaluation of the uterine cavity. RESULTS: Based on normal endometrial morphology alone, the results for detection of an abnormal uterine cavity were as follows: sensitivity of TVS 0.94, SCSH 0.97; specificity of TVS 0.56, SCSH 0.62; positive predictive value of TVS 0.79, SCSH 0.81; negative predictive value of TVS 0.83, SCSH 0.93. Transvaginal sonography combined with SCSH was superior to TVS for detection of intracavitary abnormalities. When normal endometrial morphology was combined with an endometrial thickness of < 12 mm for evaluation of all abnormalities including hyperplasia, the diagnostic potential of TVS or SCSH was almost unchanged. Transvaginal sonography missed 24% of the polyps. CONCLUSIONS: Sonohysterography was a sensitive tool and was superior to TVS used alone for evaluation of the uterine cavity in patients who underwent operative surgery for abnormal uterine bleeding.     

Catch-up growth in fetal malnourished term infants

AIM: The aim of this study is to show that the Clinical Assessment of Nutritional Status (CANS) score is an effective method to diagnose fetal malnutrition (FM) in term newborns and to monitor the catch-up growth of fetal malnourished newborns. METHODS: A group of infants have been screened at birth for fetal malnutrition status using the CANS score (malnutrition was defined by a CANS sore cut-off value). The study group (consisting of fetal malnourished and non-malnourished infants) has been monitored after birth by two follow-up exams at 3rd and 6th months. RESULTS: The study showed that the FM group, which is similar to non-FM group in terms of gender and gestational age but different in nutritional status (CANS, weight, length, head circumference) at birth, showed partial catch-up growth, more so in head circumference than in others (weight, length). CONCLUSION: The study used CANS score to determine malnutrition in term infants and showed that malnourished infants (as defined by this CANS score cut-off value) caught-up partly with respect to the non-malnourished group. Furthermore, our experience showed that CANS score is an easy and effective way to identify fetal malnourished infants, and the scores can be obtained readily by following the established clinical assessment steps.     

Incidental carcinoid of appendix in cesarean section

A case with carcinoid tumor of the appendix was encountered incidentally during an elective cesarean section. The tumor was discovered as a result of the routine exploration of the whole abdomen. The investigation for metastasis proved no evidence of spread and the patient was treated solely by surgery.     

Urethral coitus and urinary incontinence in a case of Mayer-Rokitansky syndrome: an alternative surgical procedure

A patient with vaginal agenesis presented with complaints of urethral damage due to urethral coitus. We performed a urethrospincteric reconstruction and formation of a new vagina using the bladder flap and the urethra which was used for coitus, respectively. To the best of our knowledge, this is the first report of this procedure.     

The efficacy of immediate post-abortion intrauterine device insertion

Ovulation returns soon after abortion, with half of the women ovulating by 21 days after the procedure. Immediate post-abortion insertion provides immediate contraceptive protection. Clinicians have feared that rates of uterine perforation due to intrauterine devices (IUDs) and expulsion of IUDs may be higher in the post-abortal uterus due to its softness and enlargement. This study was carried out to assess the safety and efficacy of IUD insertion immediately after induced abortion compared with insertion during the first menstrual cycle after abortion. All women were counseled about a method of contraception, particularly copper T-380A, and divided into two groups: Group 1 included 226 women who preferred immediate IUD insertion, and Group 2 included 100 women who opted for interval-IUD insertion during the first menstrual cycle after abortion. All women were followed-up at two and eight weeks after insertion of the IUDs. Severe bleeding was observed 10.62% in Group 1 and 6% in Group 2. Expulsion rate was 7.08% and 8% in Groups 1 and 2, respectively, which was not statistically significant. Pelvic inflammatory disease (PID) was observed in one case in Group 1. However uterine perforation was not noted in either group. In conclusion, insertion of an IUD immediately after an induced abortion is safe and if a woman asks for a modern contraceptive method it could be offered.     

Neonatal and maternal serum levels of soluble ICAM-1 in preeclamptic and normal pregnancies

The aim of this study is to determine whether circulating levels of sICAM-1 were changed in infants of preeclamptic mothers, and factors influencing these levels. Peripheral venous blood samples were obtained from preeclamptic and nonpreeclamptic pregnant women (control) and their babies in the first 2 hours post partum. The enzyme-linked immunoadsorbent assay (ELISA) technique was used to determine concentrations of sICAM-1. Compared with the control group, maternal and neonatal serum sICAM-1 levels were higher in the preeclamptic group. Neonatal levels were correlated with the maternal levels only, and there were no difference between premature and term babies and their mothers. In the control group, on the other hand, premature babies and their mothers had higher sICAM-1 levels than term babies and their mothers, with values close to those of premature group in the preeclamptic group. Neonatal sICAM-1 levels were correlated with gestational age, birth weight, and also with maternal levels. Linear regression analysis of these parameters, however, showed that only the gestational age was significant. The study suggests that perinatal sICAM-1 levels possibly are not independent from the maternal levels. High sICAM-1 levels in infants of preeclamptic mothers and premature babies might reflect the high maternal levels.     

Oral acitretin treatment in severe congenital ichthyosis of the neonate

Two newborn infants with ichthyosis, one with lamellar ichthyosis and one with nonbullous ichthyosis form erythroderma, who presented at birth with a collodion baby appearance, were treated with acitretin (1 mg/kg/day). Clinical improvement was achieved shortly after treatment. The second case received oral retinoid for 3.5 months and was followed for nine months. The result was excellent. The treatment resulted in a satisfactory improvement in the skin condition of the first case. The tolerance to the drug was good. Side effects were not observed. It was concluded that early management of severe ichthyosis cases could prevent life-threatening events such as hyperthermia, disturbance in electrolyte and fluid balance, and infection.     

Phenylketonuria and glycogen storage disease type III in sibs of one family

Hyperphenylalaninemia result from a block in the conversion of phenylalanine into tyrosine due to a defect in either the enzyme phenylalanine hydroxylase (98% of subjects) or in the metabolism of the cofactor tetrahydrobiopterin. Phenylalanine hydroxylase deficiency is the most common form of inherited hyperphenylalaninemia disorders, with a prevalence between 1/4,000-1/40,000. Glycogen storage disease (GSD) type III is caused by debranching enzyme deficiency of glycogen degradation. The clinical features vary in relation to the localization of the enzyme defect. Two clinical entities exist: a combined hepatic myogenic form (GSD IIIa) and a purely hepatic form (GSD IIIb). The inheritance is autosomal recessive. We describe a Turkish family in which two girls were found to have phenylketonuria, while in two other sisters glycogen storage disease type III was diagnosed. The parents of these children are cousins and they have had 12 children.