Stuart O'Toole

Society for Endocrinology UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development (Revised 2015)

It is paramount that any child or adolescent with a suspected disorder of sex development (DSD) is assessed by an experienced clinician with adequate knowledge about the range of conditions associated with DSD. If there is any doubt, the case should be discussed with the regional DSD team. In most cases, particularly in the case of the newborn, the paediatric endocrinologist within the regional team acts commonly as the first point of contact. This clinician should be part of a multidisciplinary team experienced in management of DSD and should ensure that the affected person and parents have access to specialist psychological support and that their information needs are comprehensively addressed. The underlying pathophysiology of DSD and the strengths and weaknesses of the tests that can be performed should be discussed with the parents and affected young person and tests undertaken in a timely fashion. Finally, in the field of rare conditions, it is imperative that the clinician shares the experience with others through national and international clinical and research collaboration.

Increased Occurrence of Disorders of Sex Development, Prematurity and Intrauterine Growth Restriction in Children with Proximal Hypospadias Associated with Undescended Testes

PURPOSE Proximal hypospadias represents 20% of hypospadias cases, which are considered to have a higher incidence of associated urological, nonurological, developmental and sexual development disorders, and chromosomal anomalies. We compared associated anomalies in boys with proximal hypospadias and undescended testis with those in boys with proximal hypospadias and descended testes. MATERIALS AND METHODS We reviewed the medical records of 69 boys who underwent 2-stage hypospadias repair for proximal hypospadias at a single institution during the 11-year period of 2001 to 2011. Collected data included demographics, birth history, associated urological and extra-urological anomalies, karyotype analysis and gonad palpability. Patients were divided into group 1-those with proximal hypospadias and undescended testis, and group 2-those with proximal hypospadias and descended testes. Statistical analysis was performed using the 2-tailed Fisher exact test. RESULTS There were 17 patients (25%) in group 1 with a median age of 2.2 years and 52 in group 2 (75%) with a median age of 2 years. Children in group 1 had a higher incidence of XY nondysgenetic testicular sexual development disorder (8 vs 11, p = 0.06), premature birth (9 vs 10, p = 0.01) and intrauterine growth restriction (8 each) than children in group 2 (p = 0.01). CONCLUSIONS Prematurity and intrauterine growth restriction are significantly associated with proximal hypospadias and undescended testis. Also, due to the 28% incidence of an underlying sexual development disorder, male infants with proximal hypospadias should undergo multidisciplinary evaluation.

Prolonged human chorionic gonadotrophin stimulation as a tool for investigating and managing undescended testes

Objective  To observe the outcome in a group of children with undescended testes (UDT) given prolonged human chorionic gonadotrophin (hCG) stimulation as part of their management.

The long-term outcome of patients diagnosed with sacrococcygeal teratoma in childhood. A study of a national cohort

Background/Purpose The improved survival of sacrococcygeal teratoma (SCT) has led to increased awareness of its long-term sequelae. Our aim was to assess the long-term outcome of a national cohort using detailed questionnaires. Methods The three paediatric surgery centres in Scotland were contacted to identify all SCT patients ≥5 years of age. Case notes were reviewed. Detailed separate questionnaires were used to assess long-term bowel, urinary and obstetric outcomes and were completed during an arranged interview. Groups were statistically compared using Z-tests or Fishers exact test. Results Overall, 48 patients were identified but only 31 were available for follow-up. Age ranged from 5–35 years (median 12 years and 8 months). There were 25 (81%) females and 5 (16%) patients had malignant disease. Abnormal bowel function was noted in 42% of patients, with constipation being the commonest complaint (39%) with no obvious predictive features at presentation. Urinary symptoms were reported in 55% of the patients. A total of nine (29%) patients suffered from urgency and/or wetting. Confirmed urinary tract infections (UTIs) were reported by nine patients. Successful pregnancies were reported by two females and neither of their children had SCT. Conclusions This is one of the largest national studies assessing the long-term outcome of patients with SCT. It highlights the significant gastrointestinal and urological long-term morbidities of SCT patients, which is useful for counselling families.

Urogenital anomalies in girls with sacrococcygeal teratoma: a commonly missed association

BACKGROUND The association of urogenital (UG) anomalies and sacrococcygeal teratoma (SCT) has not been widely reported. Our aim was to look at the national incidence and presentation of this anomaly in patients with SCT and to provide the first report of a clear anatomical description of this commonly missed association. METHODS Sacrococcygeal teratoma cases in Scotland during the last 30 years were identified. Patients with associated UG anomalies were reviewed in detail to identify their presentation, anatomy, and management. RESULTS Fifty-three patients with SCT were identified, including 41 girls. Five girls (12%) subsequently had a UG anomaly diagnosed, which was not apparent at the initial surgery. Two patients presented with retention, and their anomaly was diagnosed at 6 weeks and 7 months of age. The other 3 presented with incontinence, and despite thorough assessment, including cystoscopy, their UG anomalies were not recognized until the ages of 7, 9, and 13 years. CONCLUSIONS Urogenital anomalies are surprisingly common in girls with SCT. The reason for this association is unclear. None of these cases were diagnosed initially, which means that it was either missed or acquired. Urogenital anomalies should be suspected in girls with SCT and actively excluded in those with voiding difficulties.

Open versus prone retroperitoneoscopic partial nephrectomy in children: A comparative study

PURPOSE To compare the outcomes of open (OPN) and prone retroperitoneoscopic partial nephrectomy (PRPN) in children. MATERIALS AND METHODS The medical and radiological records of all children undergoing OPN and PRPN over a 6-year period (2002-2008) were reviewed. RESULTS Thirty-nine (11 boys/28 girls) partial nephrectomies were performed in a single institution. There were 24 OPNs (15 upper, 9 lower) and 15 PRPNs (13 upper, 2 lower) with a median age at surgery of 2.3 years and 3.4 years, respectively. Median duration of surgery was 50 min (range 30-180) for the OPN and 150 min (range 70-205) for the PRPN (P < 0.001). Median postoperative hospital stay was 4 days (range 2-7) for the OPN and 2 days (range 1-5) for the PRPN (P < 0.001). One patient in the OPN underwent a total nephrectomy with a loss of the remaining moiety. In 20 (87%) patients of the OPN group an epidural infusion was administered and four required a morphine infusion, while only five patients in the PRPN group required a morphine infusion. CONCLUSIONS Open partial nephrectomy had a significantly shorter operative time, but it was associated with a longer postoperative stay and higher analgesia requirements when compared to PRPN.

Testicular torsion: a complication of laparoscopic orchidopexy.

A 19-month-old boy presented with an impalpable right testis. At second-stage Fowler-Stephens laparoscopic orchidopexy, the testicle was found to be torted, a complication that has not been described previously. The procedure, known complications, possible reasons for torsion and possible techniques to avoid torsion occurring are reviewed.