Lesley Breech

Adnexal torsion in pediatric and adolescent girls.

Purpose of review This review provides timely information to assist in solving the diagnostic dilemma of adnexal or ovarian torsion. Knowledge and awareness of current literature is essential to help clinicians improve diagnostic accuracy and avoid potentially catastrophic consequences, including loss of ovarian tissue and function. Recent findings This article reviews recent evidence regarding radiologic tools used for efficient, timely diagnosis and management strategies for adnexal torsion, including detorsion. The role of oophoropexy in the pediatric and adolescent population is also reviewed. Summary The discussion reinforces the role of detorsion in lieu of oophorectomy or adnextomy in an effort to preserve reproductive capacity in a young population. Long-term follow-up, including reproductive outcomes, is needed to determine the role of oophoropexy.

Surgical correction of vaginal anomalies.

Summary of accurate diagnosis and surgical management of vaginal anomalies. Imperforate hymen, transverse septa, and distal vaginal agenesis present similarly with pain and hematocolpos. Likewise, imperforate hymen, transverse septa, distal vaginal agenesis, and Müllerian aplasia may appear similarly on examination. Imaging should be used to better differentiate the anomaly. Although surgical correction is the mainstay of hymenal anomalies, septa, obstructed hemivaginas, and distal vaginal agenesis, first-line therapy for Müllerian aplasia is progressive dilation. Many surgical techniques are also described but no consensus exists as to the best one. Clinicians should be aware of the appropriate evaluation, differential diagnosis, and management options available for vaginal anomalies.

Update in Müllerian anomalies: diagnosis, management, and outcomes

Purpose of review Müllerian anomalies include a fascinating constellation of congenital malformations. There is significant diversity in anatomic variants and their respective long-term sexual and reproductive outcomes. We review the current controversies in classification and management of vaginal, uterine, and fallopian tube anomalies. Recent findings Comparative trials of preoperative magnetic resonance imaging (MRI) and laparoscopic intraoperative evaluation have demonstrated a moderately well correlated prediction of anatomic description. Three-dimensional ultrasound technology appears to be equivalent to MRI in detecting uterine anomalies; however MRI is a consistently superior method of evaluating the vaginal and cervical anatomy. Despite advances in both modalities, care at an experienced center is most highly associated with an accurate preoperative diagnosis and a decrease in the number of inappropriate surgical procedures. Large case series continue to be the main vehicle by which treatment and surgical management of these unique anomalies are described and recommended. Case reports continue to provide information on novel approaches to improve operative techniques. In the absence of prospective studies, these series provide the only emerging information on the long-term sexual and reproductive function of women with vaginal and uterine anomalies. Summary Recent developments in three-dimensional ultrasonography and MRI improve our ability to accurately describe and diagnose female reproductive tract anomalies. With the description of new complex malformations, which do not fall into the recognized American Society of Reproductive Medicine, formerly American Fertility Society (AFS) classification system, questions arise regarding embryologic development upon which this classification system is based and support attempts to devise a new, comprehensive classification. Advances in surgical correction have expanded the options for the reconstructive surgeon when approaching a patient with an anomaly of the reproductive tract.

Hydrocolpos in cloacal malformations

INTRODUCTION Hydrocolpos is a condition rarely mentioned in the literature. The purpose of this report is to increase the index of suspicion for hydrocolpos in patients with cloaca and to describe our approach for its treatment with the hope that errors in the management of hydrocolpos can be avoided. METHODS We reviewed 411 medical records of patients diagnosed with cloaca and managed at our Center during the last 26 years. Emphasis was placed on evaluating for the presence of hydrocolpos, type of drainage, and complications related to the persistence of the hydrocolpos. RESULTS One hundred seventeen cloaca patients had an associated hydrocolpos (28.4%). Forty-two cases (36%) were initially managed at other institutions at which the hydrocolpos was not drained. Complications experienced by this group included: multiple urinary tract infections (8), hydrocolpos infection (7), sepsis (7), failure to thrive (6), ruptured hydrocolpos (4), and development of hydronephrosis in previously normal kidneys (2). Forty-one patients (35%) had other modalities of treatment, aimed to drain the hydrocolpos, including vesicostomy (26), intermittent perineal catheterization (8), single aspiration (6), or plasty of the perineal orifice (1). In all of these cases, the hydrocolpos persisted or reaccumulated. Thirty-four patients (29%) underwent an effective drainage of the hydrocolpos at birth; 29 at other institutions, 15 with a tube vaginostomy, 13 with a tubeless vaginostomy, and 1 with a catheter placed and left in the vagina through cystoscopy. Five cases had a tube vaginostomy done by us. In all these cases, the vagina remained adequately drained as demonstrated radiologically. Proper drainage of the hydrocolpos alone, with no urologic intervention, dramatically improved the hydronephrosis in 13 cases. CONCLUSIONS Hydrocolpos in patients with cloacas must be diagnosed and treated early in life. Our preferred approach is a transabdominal indwelling vaginostomy tube. The drainage of the hydrocolpos alone may dramatically improve the hydronephrosis, and therefore, we suggest that only after the hydrocolpos is drained should a urological intervention be contemplated. Failure to drain the hydrocolpos can result in serious complications.

Gynecologic concerns in patients with anorectal malformations

Children with anorectal malformations (ARMs) constitute a significant group within a pediatric surgery practice. In females, the most common ARM is an imperforate anus with a rectovestibular fistula, followed by an imperforate anus with a rectoperineal fistula and then cloacal anomalies. Some malformations, such as an imperforate anus with a rectovestibular fistula, may seem straightforward, treated with a posterior sagittal anorectoplasty; however, it is vital to recognize the association with gynecologic anomalies. Girls with the most complex anorectal defect, cloacal malformation, have significant associated urological and gynecologic anomalies, which should be recognized and treated. An opportunity to diagnose and treat such anomalies may be missed in the newborn period or at the definitive surgery, unless the pediatric surgeon is aware of this association. With the knowledge of the associated anomalies and long-term sequelae, surgeons can provide better care for girls and important counseling for parents. Important gynecologic issues to consider may be divided into several categories, such as infancy, puberty, sexual intimacy, and obstetrical concerns. Knowledge of reproductive-related issues in females with ARMs allows the pediatric surgeon and their gynecology colleagues to provide optimal surgical management throughout infancy, childhood, and into young adulthood. Appropriate counseling for patients and families about potential reproductive concerns that may develop many years after the definitive surgical repair allows preparation and planning to preserve future fertility.

Gynecologic Examination for Adolescents in the Pediatric Office Setting

The American Academy of Pediatrics promotes the inclusion of the gynecologic examination in the primary care setting within the medical home. Gynecologic issues are commonly seen by clinicians who provide primary care to adolescents. Some of the most common concerns include questions related to pubertal development; menstrual disorders such as dysmenorrhea, amenorrhea, oligomenorrhea, and abnormal uterine bleeding; contraception; and sexually transmitted and non–sexually transmitted infections. The gynecologic examination is a key element in assessing pubertal status and documenting physical findings. Most adolescents do not need an internal examination involving a speculum or bimanual examination. However, for cases in which more extensive examination is needed, the primary care office with the primary care clinician who has established rapport and trust with the patient is often the best setting for pelvic examination. This report reviews the gynecologic examination, including indications for the pelvic examination in adolescents and the approach to this examination in the office setting. Indications for referral to a gynecologist are included. The pelvic examination may be successfully completed when conducted without pressure and approached as a normal part of routine young womens health care.

Rectovestibular fistula—rarely recognized associated gynecologic anomalies

INTRODUCTION Vestibular fistulas are the most common anorectal malformations (ARMs) in females. Associated gynecologic defects are rarely mentioned in the literature but may have serious clinical implications if undetected. The definitive repair of the ARM offers an opportunity for diagnosis and treatment of these conditions. METHODS Two hundred seventy-two patients with vestibular fistula were retrospectively reviewed, with emphasis on gynecologic defects. RESULTS Forty-eight patients (17%) had 83 gynecologic anomalies. Fourteen patients had a vaginal septum, all with 2 uterine cervices. All septa were resected at the main repair. Twenty-six patients had no vaginal opening. Twenty of them had absent vagina. Eighteen of those had an absent uterus. Patients with absent vagina underwent vaginal replacement with distal rectum (12), sigmoid (6), and ileum (2). Six patients had a patent upper vagina; 3 reached the perineum after mobilization and 3 required replacement; 2 with sigmoid and 1 with rectum. CONCLUSION Vaginal septa are easily diagnosed and can be resected during the repair of the vestibular fistula. The presence of 2 cervices has important obstetric implications. Absent vagina requires a technically demanding repair, with special preoperative planning. Vaginoscopy or careful inspection should precede surgical reconstruction.

Surgicel in the management of labial and clitoral hood adhesions in adolescents with lichen sclerosus.

STUDY OBJECTIVE Lichen sclerosus (LS) is an inflammatory dermatosis of the vulva with potentially destructive consequences to the young womans perineum. Long-term sequelae include atrophy of the labia minora, scarring of the clitoral hood, and labial and/or clitoral hood adhesions. This study aims to find techniques for preventing these devastating effects. PARTICIPANTS Three young women, ages 14 and 15 years, with a long history of lichen sclerosus and labial adhesions, presented with recurrent labial and periclitoral adhesions. Increasing pain prior to presentation, exquisite enough to inhibit even walking, necessitated urgent operative intervention. Scarring of the clitoral hood with an area of firmness beneath the scarring was present. Sharp dissection of the clitoral hood was performed with the entrapped keratinaceous debris and hair expressed. The adherent labia were separated. Surgicel, oxidized regenerated cellulose gauze (Johnson & Johnson, Arlington, TX), was sutured to the exposed clitoral hood and labial surfaces with vicryl suture. Complete dissolution of the Surgicel occurred between postoperative day 4-6 without recurrence of adhesions. One-year follow-up did not reveal any evidence of recurrence in any of the three patients. CONCLUSION The recurrence of labial and clitoral hood adhesions in young women with a history of LS was prevented for at least 1 year by surgical lysis and application of Surgicel to the affected area. This technique has prevented the recurrence during the interval when these surfaces are at highest risk of re-agglutination.

Complexities of gender assignment in 17β-hydroxysteroid dehydrogenase type 3 deficiency: is there a role for early orchiectomy?

Background17β-Hydroxysteroid dehydrogenase type-3 (17βHSD-3) deficiency is a rare cause of 46,XY disorders of sex development. The enzyme converts androstenedione to testosterone, necessary for masculinization of male genitalia in utero. 17βHSD-3 deficiency is frequently diagnosed late, at puberty, following virilization, with consequent female-to-male gender reassignment in 39-64%. The decision for sex of rearing is difficult, especially if diagnosed in early childhood. Consensus guidelines are equivocal or support male gender assignment. Long-term outcomes data to guide decisions are also lacking; however, in the few cases of early diagnosis and orchiectomy, female gender retention appears more likely.We report two patients with 17βHSD-3 deficiency, who presented at unusual ages, in whom female gender was chosen. We performed a focused literature review and summary of gender outcomes in 17βHSD-3 deficiency following early orchiectomy.CasesPatient A was a phenotypic female who presented at one year of age with bilateral inguinal hernias and external female genitalia. Testes were identified at surgery. The karyotype was 46,XY. She was initially diagnosed with complete androgen insensitivity syndrome; however, androgen receptor mutation analysis was negative. Human chorionic gonadotropin stimulation yielded a low testosterone: androstenedione ratio (0.6, normal >0.8). Genetic testing demonstrated compound heterozygosity for two known mutations of the HSD17B3 gene. She underwent bilateral orchiectomy at two years of age.Patient B was born with female genitalia and virilized at 13 years of age. She did not seek evaluation until 22 years of age. Her karyotype was 46,XY. She had bilateral inguinal testes and low testosterone: androstenedione ratio (0.3). HSD17B3 gene sequencing showed her to be a compound heterozygote for two known mutations. She identified herself as female and underwent bilateral orchiectomy and estrogen replacement therapy.ConclusionsThese two patients highlight the complexities of diagnosis and management in 17βHSD-3 deficiency. Although existing data are limited, early orchiectomy is likely to result in retention of female gender identity, avoiding the complications related to virilization in adolescence. As such, it is important to pursue a definitive diagnosis to guide clinical decisions, and to have the support and long term follow up with an inter-disciplinary disorders of sex development team.

Posterior cloaca—further experience and guidelines for the treatment of an unusual anorectal malformation

INTRODUCTION The term posterior cloaca refers to a malformation in which the urethra and vagina are fused, forming a urogenital sinus that deviates posteriorly to open in the anterior rectal wall or immediately anterior to the anus. METHODS A retrospective review of 411 patients diagnosed with cloaca was performed to identify the ones with a posterior cloaca. Special emphasis was placed on anatomy, diagnosis, associated anomalies, and outcome in terms of urinary and fecal continence. Surgical treatment was a total urogenital mobilization with a transrectal approach. RESULTS Twenty-nine patients were diagnosed with a posterior cloaca. Of these, 15 had a single orifice at the normal location of the anus with the urogenital sinus opening in the anterior rectal wall. Fourteen had the urogenital sinus opening immediately anterior to the normally located anal opening (2 orifices), which we considered a posterior cloaca variant. Nineteen patients (65%) had hydrocolpos. Twenty-seven patients (93%) had associated urologic anomalies, 12 patients (41%) had gynecologic anomalies, and vertebral malformations occurred in 41% of cases. Other anomalies included gastrointestinal (7 patients), cardiac (5), and tethered cord (2). Late diagnosis occurred in 2 patients. Twenty patients were available for long-term follow-up: 17 are fecally continent, 3 are fecally incontinent, 11 are urinary continent, 5 are dry with intermittent catheterization, and 4 have dribble urine. CONCLUSION The most important characteristic of the posterior cloaca is the high frequency of a normal anus, which differentiates this malformation from the classic cloaca. Often, many associated malformations are present and therefore should be suspected and diagnosed. The main goal during the operation should be to not mobilize the anus and thereby preserve the anal canal. A total urogenital mobilization, transperineally or with a transanorectal approach, is ideal for the repair.