Persistent Müllerian duct syndrome: A novel mutation in the Αnti-Müllerian Ηormone gene.

BACKGROUND AND OBJECTIVE: Persistent Müllerian duct syndrome (PMDS) is a relatively rare form of 46,XY disorder of sex development caused by the failure of formation, release or action of anti-Müllerian hormone (AMH) in intrauterine life. In this report we describe a case diagnosed with PMDS with a novel homozygous mutation in the AMH gene. CASE REPORT: A 4-month-old male presented with bilateral cryptorchidism and normal external genitalia. The laboratory examination revealed normal gonadotropin levels for his age (FSH: 0.91 mIU/mL, LH: 1.23 mIU/mL, testosteron <0.13 ng/mL, respectively). AMH was undetectable (<0.01 ng/mL). Ultrasonography (USG) revealed absence of the left gonad and an intraabdominally located right gonad. Laparoscopy demonstrated the presence of a rudimentary uterus and fallopian tubes. Karyotyping revealed a normal 46,XY karyotype. Molecular genetic analysis demonstrated a novel homozygous mutation [p.C526F (c.1577G>T)] in the AMH gene. CONCLUSION: PMDS should be kept in mind in all cases with bilateral crytorchidism. Orchidopexy and resection of Mulletian duct derivates, exercising extra caution with regard to maintaining vascular supply to the testis, is the recommended approach.

Inguinal herniotomy with the Mitchell-Banks' technique is safe in older children.

PURPOSE: There is a tendency for the majority of surgeons to open the inguinal canal in children over two years old when performing inguinal hernia repair. On the other hand, in small children, most surgeons perform the herniotomy superficially to the external ring, as in Mitchell-Banks' technique (MBT). Our aim was to compare the Ferguson hernioplasty (FH) and Mitchell-Banks' technique in terms of recurrence and complication rates in older children. METHODS: We retrospectively reviewed the office medical records of children who were at least two years old and who underwent a herniotomy procedure for inguinal hernia between 1997 and 2012. RESULTS: The 4520 inguinal herniotomy procedures in boys who were over two years old were included in this study. Of these cases, 1607 cases (40.2%) were operated on by a FH with opening the inguinal canal, and 2388 cases (59.8%) by MBT superficially to the external ring. The median ages were 5.1 years (range, 2.0-16.2) in the FH group and 4.6 years (2.0-14.6) in the MBT group. The total complication rates were 2.3% in the FH group and 2.9% in the MBT group (P>.05). Early complications such as wound infection, scrotal edema, and hematoma were seen in 13 (0.8%), 15 (1%), and 10 (0.6%) in the FH group, and 12 (0.5%), 18 (0.7%), and 15 (0.6%) in the MBT group, respectively (P>.05). Late complications such as recurrence, trapped undescended testis, and testicular atrophy were seen in 2 (0.12%), 1 (0.06%), and 2 (0.12%) in the FH group, and 3 (0.12%), 1 (0.04%), and 2 (0.08%) in the MBT group (P>.05). CONCLUSION: The Mitchell-Banks technique is a simple and safe procedure in older boys.

Determining external genital abnormalities with a pre-circumcision examination in previously undiagnosed male school children.

PURPOSE: We investigated whether children getting ready for circumcision under local anesthesia had any additional genital region abnormalities not detected before the circumcision. MATERIALS AND METHODS: We performed circumcision under local anesthesia for children with normal physical examination findings, and together with corrective surgery for those with other genital anomalies among the children aged 6 years old and over presenting at the pediatric surgery department of our hospital during the school break. RESULTS: Circumcision was planned under local anesthesia in a total of 1,695 cases aged between 6 and 17 years during the June to September 2010 and 2011 periods. We found an external genital anomaly in the pre-circumcision physical examination in 58 patients (3.4%), with a mean age of 7.87 ± 1.49 years. These patients were operated on with corrective surgery while 1,637 children underwent circumcision under local anesthesia. The most common anomaly was inguinal hernia seen in 14 (24.1%), followed by hypospadias in 11 (18.9%), hydrocele in 9 (15.9%) and undescended testis in 8 (13.8%). CONCLUSION: In countries where circumcision is traditional, an intervention room within the hospital to perform circumcision under local anesthesia can enable many children to be circumcised under hospital conditions and previously undetected genital abnormalities to be found with a pre-circumcision genital region examination.

Ischemia-modified albumin may be a novel marker for the diagnosis and follow-up of necrotizing enterocolitis.

AIM: We investigate the efficacy of serial ischemia-modified albumin (IMA) measurements in diagnosis and follow-up of necrotizing enterocolitis (NEC), and compare its effectiveness with C-reactive protein (CRP), interleukin-6 (IL-6), in NEC. METHODS: Preterm infants, whose gestational age and weight matched each other, were grouped as control (n = 36) and NEC (n = 37). IMA, CRP, IL-6 levels were measured on the third day of life for the control group and on the day of diagnosis (first day), third, and seventh days of NEC. RESULTS: IMA, CRP, and IL-6 levels were significantly increased in NEC patients compared to the control group (P < 0.001) on the follow-up. IMA levels were significantly higher in infants with stage-III NEC than those in infants with stage-II NEC on the first, third, and seventh days (P < 0.001). The area under curve for IMA (0.815 at diagnosis, 0.933 at the third day, 0.935 at the seventh day) were significantly higher than CRP and IL-6 at all days for predicting perforation in infants with NEC (P < 0.001). Similarly, the area under curve for IMA (0.952 at diagnosis, 0.929 at the third day, 0.971 at the seventh day) was significantly higher than CRP and IL-6 at all consequent days of diagnosis for predicting mortality in infants with NEC (P < 0.001). CONCLUSION: Ischemia-modified albumin was found to be superior to CRP and IL-6 in both diagnosis and follow-up of NEC.

Using the parents' video camera for the follow-up of children who have undergone hypospadias surgery decreases hospital anxiety of children.

PURPOSE: We investigated the benefits of using the parents' video camera records for the follow-up of children who had undergone hypospadias surgery in terms of reducing fear and hospital anxiety of the children and the time spent in the waiting room. METHODS: This prospective study was performed on children with proximal hypospadias. The patients were called for the follow-up appointment on the 7th postoperative day and were divided into 3 groups. The first group was the control group where parents were not given any follow-up visit direction. The parents of the second group were told to have their child drink enough fluids and come with a full bladder, while the third group of parents recorded their child's micturition using a video camera. The fear and anxiety of children at the postoperative visit were evaluated and recorded using a scoring system between 0 and 4 using the Children's Fear Scale (CFS) brochure. The time elapsed from the arrival of the parents in the outpatient clinic to their departure was also recorded for comparison of the total time spent during the follow-up visit among the groups. RESULTS: Thirty boys who underwent hypospadias repair were enrolled in this study. The median CFS scores at the postoperative follow-up visit were 2.99±0.99 (range: 1-4) in the first group, 2.90±0.87 (range: 1-4) in the second group, and 0.00 (range 0-0) in the third group. The median total time spent during the follow-up visit in the 3 groups was 61.50±17.08 (range 35-88), 18.1±13.01 (range 4-45), and 4.0±0.81 (3-5) minutes, respectively. Both CFS and total time spent were significantly lower in the third group (p<0.01). CONCLUSION: Imaging of micturition at home by using a video camera for outpatient visits following hypospadias surgery will decrease the fear and anxiety of children and the time that the family spends at the hospital.

A rare cause of childhood ileus: giant mesenteric lipoma and a review of the literature.

Mesenteric lipomas are benign tumors of mature fat cells. They are usually asymptomatic and create a clinical picture that depends on the localization and size of the lipoma. Although rare, unusually large mesenteric giant lipomas can cause partial or complete bowel obstruction. Lipomas resulting in partial bowel obstruction can present with symptoms such as intermittent abdominal pain and abdominal distention. With complete obstruction, a child can present with an acute abdomen. Treatment is the excision of the mass along with the affected portion of bowel. In this case study, a 2-year-old female presented with a bowel obstruction due to the presence of a giant mesenteric lipoma. Clinical features of 16 cases published in the English literature to date are presented.

Congenital scaphoid megalourethra: report of two cases.

Congenital megalourethra is a rare congenital malformation of the penile urethra. It is defined as the diffuse dilatation of the anterior urethra due to the absence of development of the erectile tissue of the penis. Since the initial description, nearly 80 cases with megalourethra have been reported in English literature. Congenital megalourethra has been classified into scaphoid and fusiform types and is usually associated with additional urinary tract and other system anomalies, irrespective of its type and severity. We report two rare cases of scaphoid megalourethra without any associated anomaly. A 13-year-old boy and an 8-month-old boy were admitted to the Department of Pediatric Surgery with complaints of penile swelling and dysuria since birth. Physical examination and retrograde cystourethrogram confirmed the diagnosis of congenital scaphoid megalourethra. Both patients underwent a reduction urethroplasty. They did well postoperatively and voided with a normal stream without any abnormality of the penile shaft.

Serum inhibin B levels reflect contralateral testicular damage following unilateral testicular trauma.

INTRODUCTION: The aim of this study was to evaluate contralateral testicular damage (CTD) following unilateral blunt testicular trauma (BTT) and testicular capsule laceration (TCL) by the serum inhibin B level which is an accepted marker of spermatogenesis. METHODS: Fifty peripubertal male Wistar albino rats were divided into 5 groups each containing 10 rats. Group 1 was the control group. Group 2 was the BTT group in which the right testicle was placed on a firm surface and a metal rod weighing 215 g was dropped onto the testicle from a height of 5.5 cm. Group 3 was the TCL group in which right testicular tunica albuginea was lacerated using the needle of 4/0 silk suture. Group 4 had right orchiectomy initially. Group 5 was the sham group. In all groups, 3-ml blood samples were taken and bilateral orchiectomies were performed 6 weeks after initial manipulations. RESULTS: Groups 2 and 3 had decreased inhibin B levels (p < 0.001), although the orchiectomy group had normal levels. Histological analyses showed lower Johnsen scores for both trauma groups in the ipsilateral and contralateral testes (p < 0.05). CONCLUSIONS: Serum inhibin B levels decrease following unilateral testicular trauma reflecting CTD.