'Botched labiaplasty': a content analysis of online advertising for revision labiaplasty.

A new development in female genital cosmetic surgery (FGCS) is the promotion of revision surgery for 'botched labiaplasty'. This content analysis study reviews the quality of information offered on websites specifically advertising revision labiaplasty. Twelve websites were identified through online searches and were examined for the quality of their clinical information. All sites defined botched labiaplasty as unsatisfactory appearance after labiaplasty. Four gave no further details and five listed asymmetry, irregular labial edges or removal of too much or too little tissue. Four websites described primary botched labiaplasty as 'mutilation'. Inadequacy of the primary surgeon was cited as the cause of botched labiaplasty in 11/12. Only two websites mentioned risks of surgery. Good outcomes were not defined and no website provided outcome data although guaranteed satisfaction was implied in two websites. This study highlights the existence and promotion of services for botched labiaplasty using non-specific and emotive descriptions. These findings suggest that unsatisfactory results from consumers' perspectives are far from uncommon. The same women whose expectations have not been met by primary surgery are now being targeted for repeat surgery with online advertising capitalising on their unchanged motivations.Impact StatementWhat is already known on this subject? Female genital cosmetic surgery (FGCS) is mainly advertised online with labiaplasty as the most commonly performed procedure. A market for labiaplasty revision to correct 'botched' primary procedures is developing. Academic literature and advertising materials are inconsistent when defining indications and determinants of success for labiaplasty or revision.What the results of this study add? A content analysis of websites specifically advertising revision labiaplasty describes the emotive and nonspecific terms used online to promote revision labiaplasty.What the implications are of these findings for clinical practice and/or further research? The existence of services for botched labiaplasty suggests dissatisfaction is common. Women whose expectations have not been met by primary surgery are targeted for repeat surgery through online advertising capitalising on their potentially unchanged motivations. This study demonstrates the need for clearer outcome data for labiaplasty and highlights the need for better advertising standards for FGCS promotion.

Establishing reproductive potential and advances in fertility preservation techniques for XY individuals with differences in sex development.

BACKGROUND: Discordance between gonadal type and gender identity has often led to an assumption of infertility in patients with differences in sex development (DSD). However, there is now greater recognition of fertility being an important issue for this group of patients. Currently, gonadal tissue that may have fertility potential is not being stored for individuals with DSD and, where gonadectomy forms part of management, is often discarded. The area of fertility preservation has been predominantly driven by oncofertility which is a field dedicated to preserving the fertility of patients undergoing gonadotoxic cancer treatment. The use of fertility preservation techniques could be expanded to include individuals with DSD where functioning gonads are present. METHODS: This is a systematic literature review evaluating original research articles and relevant reviews between 1974 and 2018 addressing DSD and fertility, in vitro maturation of sperm, and histological/ultrastructural assessment of gonadal tissue in complete and partial androgen insensitivity syndrome, 17ß-hydroxysteroid dehydrogenase type 3 and 5α-reductase deficiency. CONCLUSION: Successful clinical outcomes of ovarian tissue cryopreservation are paving the way for similar research being conducted using testicular tissue and sperm. There have been promising results from both animal and human studies leading to cryopreservation of testicular tissue now being offered to boys prior to cancer treatment. Although data are limited, there is evidence to suggest the presence of reproductive potential in the gonads of some individuals with DSD. Larger, more detailed studies are required, but if these continue to be encouraging, individuals with DSD should be given the same information, opportunities and access to fertility preservation as other patient groups.

An exploration of attitudes towards female genital mutilation (FGM) in men and women accessing FGM clinical services in London: a pilot study.

This pilot study researched the attitudes towards and the knowledge of female genital mutilation (FGM) in adult women with FGM and their partners. The participant population consisted of English-speaking women and men over 18 years old attending specialist FGM clinics in two London hospitals. The participants completed a questionnaire on the attitudes and the knowledge of FGM, which were adapted with permission from the United Nations Children's Fund and the United States Agency for International Development household surveys. 54 participants (51 women, 3 men) took part in the surveys. 89% of participants thought that FGM should be stopped (95%CI: 0.81-0.97) and 72% said they knew FGM is illegal in the United Kingdom (UK). 15% reported that FGM caused no danger, or were unaware of any danger to women's health. This study demonstrates the opposition to FGM by participants, but some lack of knowledge regarding the legal and health implications. The exploration of attitudes in diaspora community groups is often cited as key to safeguarding girls from FGM. This is one of the first UK studies of individuals from FGM-practising communities, and we recommend use of the study questionnaires for a multicentre, cross-community study. Impact statement What is already known about this subject? Women and children are affected by female genital mutilation (FGM) globally and in the United Kingdom (UK). The majority of knowledge on practices and the attitudes towards FGM comes from UNICEF and USAID research in Africa and there is scant data on FGM practices in diaspora communities in the UK. What do the results of this study add? This study provides an appropriate questionnaire and protocol for use in community-based national research to improve healthcare for women by collecting up-to-date data on the attitudes towards FGM among the members of FGM-practising communities in the UK. What are the implications of these findings for clinical practice and further research? The implications of the results of this study are that health professionals need to understand that patients do not always know the law on FGM, even after a consultation. Health and social care professionals are placed in a unique position to work with community members to educate men and women to end FGM.

Bone mineral density in complete androgen insensitivity syndrome and the timing of gonadectomy.

OBJECTIVE: Low bone mineral density (BMD) has been reported in complete androgen insensitivity syndrome (CAIS), but the impact of timing of gonadectomy is not known. We aimed to assess the relationship between age of gonadectomy and BMD in women with CAIS. DESIGN: Retrospective analysis of pre- and post-gonadectomy parameters in women with CAIS attending an adult Disorders of Sex Development (DSD) clinic in a tertiary centre. PATIENTS: One hundred and thirteen women with CAIS. MEASUREMENTS: Dual-energy X-ray absorptiometry (DXA) before and after gonadectomy; and pre-gonadectomy hormone profile. RESULTS: Mean BMD was reduced (95% confidence interval); T-score -1.34 (-1.55 to -1.13; P<.001) at the lumbar spine and -0.3 (-0.49 to -0.12; P=.001) at the hip. There was no relationship between age of gonadectomy and BMD. Thirty-two subjects had BMD measured before or within 2 years of gonadectomy, and mean BMD was reduced (95% CI) at the lumbar spine; T-score: -1.05 (-1.54 to -0.57; P<.001), but was normal at the hip; T-score -0.04 (-0.35 to 0.28; P=.8). There was no relationship between BMD and history of hernia, testosterone, oestradiol or follicle stimulating hormone levels. Twelve subjects had DXA both before and after gonadectomy, and after 4.3 (1.7-12.8) years, there was no change in BMD. CONCLUSIONS: We found reduced BMD at the spine and hip in subjects with CAIS. We found no relationship between age of gonadectomy and BMD, and we also found no drop in BMD in subjects followed up after gonadectomy.

Setting up a clinic to assess children and young people for female genital mutilation.

It is now mandatory for health, social care professionals and teachers to report to the police all under-18s where female genital mutilation (FGM) has been disclosed by the child or where physical signs of FGM are seen. Such referrals are likely to result in a request for medical examination. New multiagency statutory guidance sets out instructions for physical examination but provides no details how services should be set-up. This review gives practical guidance learnt from the first year of the UK's only dedicated children's FGM service.

Adolescent and adult outcomes in women following childhood vaginal reconstruction for cloacal anomaly.

PURPOSE: We examined outcomes in female adolescents and women who underwent vaginoplasty in childhood during genitourinary reconstruction for cloacal anomalies. MATERIALS AND METHODS: We retrospectively reviewed the medical notes on girls and women attending an adult specialist center for genitourinary anomalies. Data were collected on vaginal reconstruction, menstruation, sexual and reproductive function, and urological and gastroenterological outcomes. RESULTS: We identified 19 patients with a mean age of 22 years (range 13 to 35), of whom 16 (84%) underwent vaginoplasty in the first year of life. Nine of these 16 patients (56%) had required 1 (7) or 2 (2) further vaginal reconstructions to facilitate menstruation or sexual activity. The remaining 7 patients (44%) required no further vaginal reconstruction. Nine of the 19 patients (47%) had associated müllerian anomalies, obstructed menstruation developed in 5 (26%) and 1 required hemihysterectomy. Eight patients were sexually active, of whom 1 experienced difficult penetration. Three patients attempted to conceive, including 1 with a complex preterm delivery and 2 undergoing fertility treatment. Of the patients 74% underwent further reconstruction of the renal tract and 36% had an enteric stoma. CONCLUSIONS: This study confirms the complexity of vaginal reconstruction in this group with a notable vaginoplasty revision rate. Müllerian anomalies were identified in almost half of the patients, a higher incidence than previously reported, and in a quarter obstructed menstruation developed in puberty. A specialist team with gynecologic input should treat patients with cloacal anomalies. Outcome data are sparse. There remains a need for well planned, prospective cohort studies that include assessments of psychological, sexual and reproductive outcomes.

Sexual function and health-related quality of life in women with classic bladder exstrophy.

OBJECTIVE: To investigate sexual function and quality of life in adolescent and adult women with classic bladder exstrophy (BE). MATERIALS AND METHODS: A two-part observational cross-sectional study with a questionnaire arm and a retrospective case review arm was performed. The study was undertaken in a centre providing a tertiary referral gynaecology and urology service. Outcomes were sexual function and quality-of-life scores. RESULTS: A total of 44 patients with BE were identified from departmental databases and included in the study, of whom 28 (64%) completed postal questionnaires. Sexual function scores and quality-of-life visual analogue scales were significantly poorer compared with normative data. CONCLUSIONS: Bladder exstrophy has a detrimental psychological impact on women. In future, methodical multidisciplinary paediatric follow-up research will help to identify predictors of better and worse adolescent and adult outcomes. Development and evaluation of cost-effective psychological interventions to target specific problems is also warranted.

The long-term management and outcomes of cloacal anomalies.

Cloacal anomalies occur when failure of the urogenital septum to separate the cloacal membrane results in the urethra, vagina, rectum and anus opening into a single common channel. The reported incidence is 1:50,000 live births. Short-term paediatric outcomes of surgery are well reported and survival into adulthood is now usual, but long-term outcome data are less comprehensive. Chronic renal failure is reported to occur in 50 % of patients with cloacal anomalies, and 26-72 % (dependant on the length of the common channel) of patients experience urinary incontinence in adult life. Defaecation is normal in 53 % of patients, with some managed by methods other than surgery, including medication, washouts, stoma and antegrade continent enema. Gynaecological anomalies are common and can necessitate reconstructive surgery at adolescence for menstrual obstruction. No data are currently available on sexual function and little on the quality of life. Pregnancy is extremely rare and highly risky. Patient care should be provided by a multidisciplinary team with experience in managing these and other related complex congenital malformations. However, there is an urgent need for a well-planned, collaborative multicentre prospective study on the urological, gastrointestinal and gynaecological aspects of this rare group of complex conditions.

Evaluation of retained testes in adolescent girls and women with complete androgen insensitivity syndrome.

PURPOSE: To evaluate the magnetic resonance (MR) imaging appearance of the testes in women with complete androgen insensitivity syndrome (CAIS), including any benign or malignant changes. MATERIALS AND METHODS: This was a retrospective review of the testicular MR images and histologic reports from 25 patients with CAIS who chose to retain their testes beyond age 16 years and who were imaged between January 2004 and December 2010. Ethical approval was obtained, and informed consent was obtained from each subject to review the medical records, images, and histologic slides and reports. Imaging and histologic findings were compared. RESULTS: Twelve patients (mean age, 24 years; age range, 18-39 years) retained their testes and 13 (mean age, 22 years; age range, 17-37 years) eventually underwent gonadectomy. Review of the MR images showed that testicular parenchyma was heterogeneous in 30 of 46 testes (65%). The most common changes on MR images included simple-looking paratesticular cysts (34 of 46 testes, 74%) and low-signal-intensity, well-defined Sertoli cell adenomas (26 of 46 testes, 56%). Correlation of the histologic and MR imaging findings showed that MR imaging could correctly depict the presence or absence of Sertoli cell adenomas in 19 of 23 testes (83%). Paratesticular cysts were correctly detected in 22 of 23 testes (96%). Microscopic examination showed that the testes were composed of atrophic seminiferous tubules, whereas germ cells were found in 13 of 26 testes (50%). All paratesticular cysts were confirmed to be benign; however, a focus of intratubular germ cell neoplasia was found in a Sertoli cell adenoma. Premalignant foci were detected in three patients, two with intratubular germ cell neoplasia and one with sex cord tumor with annular tubules. No invasive cancers were found. CONCLUSION: MR imaging is accurate in the detection of testicular changes, including paratesticular cysts and Sertoli cell adenomas. Although these changes are usually benign, Sertoli adenomas can sometimes harbor premalignant lesions. MR imaging cannot depict premalignant changes; therefore, the standard of care for patients with CAIS should remain gonadectomy after puberty.

Lower urinary tract symptoms in women with vaginal agenesis.

INTRODUCTION AND HYPOTHESIS: Congenital vaginal aplasia is a condition with devastating implications for fertility and sexuality. However, little is known on whether urinary symptomatology is more common prior and following vaginal lengthening procedures in these women. METHODS: We performed a prospective observational study of 19 women with vaginal agenesis before and after vaginal dilation treatment or a laparoscopic Vecchietti procedure. All women completed the ICIQ FLUTS questionnaire before and after treatment in order to assess incidence and changes in urinary symptomatology. RESULTS: Urinary symptoms were present in 53% of women prior to treatment. The majority of bladder symptoms were not significantly altered by treatment, except for incomplete bladder emptying. Women following the Vecchietti procedure had increased urinary hesitancy and a poorer steam compared with those completing dilation treatment. The longer the vaginal length, the greater the urinary frequency. CONCLUSION: Women with vaginal agenesis had significant levels of urinary symptoms and to our knowledge this has not been reported before. The majority of symptoms were not altered by treatment.

Complex gynaecological and urological problems in adolescents: challenges and transition.

The diagnosis and early management of genitourinary disorders in children is challenging for the child, parents and carers. There have been enormous developments in paediatric care medically and surgically and as a result many patients with complex anomalies reach adult life and have a normal desire for a good quality of life. Adolescence changes the challenges faced as anatomical growth may alter the surgical outcomes both functionally and cosmetically. Emotional and psychological development also creates important challenges that all those involved have to face. These patients need expert care and advice throughout adolescence and into adult life. This should be delivered by a multidisciplinary team that includes urology, gynaecology, nephrology, endocrinology and psychology. This creates a safe clinical and supportive environment for patients and their families.

Timing of gonadectomy in adult women with complete androgen insensitivity syndrome (CAIS): patient preferences and clinical evidence.

OBJECTIVE: Adult women with complete androgen insensitivity syndrome (CAIS) are increasingly likely to defer or decline gonadectomy despite counselling about malignancy risk. The objectives of this study were to review the evidence on the risk of gonadal malignancy in adult women with CAIS and to explore women's reasons for deferring gonadectomy. STUDY DESIGN: A case series and literature review. PATIENTS: Sixteen women with CAIS over the age of 18 years who have elected to defer gonadectomy. RESULTS: Sixty-two relevant papers were identified. Of these, 14 confirmed that tumours had been reported in 98 adults. Taking into account the limitations of combining historic case series, this review estimates a risk of gonadal malignancy of 14% (range 0% and 22%) in adults with CAIS. The most common reasons women offered for deferring gonadectomy included inconvenience of surgery, concern about surgical risk and reluctance to take hormone replacement therapy. CONCLUSIONS: Perceived benefits for retaining gonads in women with CAIS are prompting more women to keep their gonads in situ. An accurate estimate for adult malignancy risk is unavailable, and the risks currently quoted may be falsely reassuring.

Reproductive outcomes in women with classic bladder exstrophy: an observational cross-sectional study.

OBJECTIVE: We sought to examine the reproductive outcomes of 52 women with classical bladder exstrophy. STUDY DESIGN: This was an observational study with cross-sectional and retrospective arms. RESULTS: The average age of the sample was 33 years (range, 17-63). Of those who had tried, 19/38 (66%) had conceived. A total of 57 pregnancies (3 sets of twins) were reported for the 19 patients and resulted in 34/57 live births (56%), 21/57 miscarriages (35%), 1/57 (2%) termination, and 4/57 (7%) stillbirths or neonatal deaths. Four deliveries resulted in major complications including 1 transection of the ureter (4%), 1 fistula formation (4%), and 2 postpartum hemorrhages (8%). There were 2 admissions to intensive care, one for urinary sepsis and another for massive obstetric hemorrhage. CONCLUSION: Fertility is impaired in women with bladder exstrophy. Pregnancy is high risk both for the mother and baby. Delivery should be at a tertiary referral obstetric unit with urology cover. In the majority of cases planned cesarean section is the most appropriate mode of delivery.

Genital prolapse in adult women with classical bladder exstrophy.

INTRODUCTION AND HYPOTHESIS: The aim of this paper is to study the incidence and risk factors for genital prolapse in adult women with bladder exstrophy and to describe the long-term outcome of the Gore-Tex wrap procedure for genital prolapse. METHODS: A retrospective observational study on adult women with classical bladder exstrophy in a tertiary referral centre for disorders of sex development, including complex urogenital anomalies. Medical notes were reviewed and a confidential postal questionnaire on urinary continence and symptoms of prolapse was carried out. RESULTS: Fifty-two women with bladder exstrophy and a mean age of 39 years (range 23 to 63) were identified, of whom 27 patients (52%) developed pelvic organ prolapse. Twenty-three out of 27 (85%) were treated surgically while only 4 patients were managed expectantly. Risk factors for prolapse included pregnancy in 10 (37%) patients and introitoplasty in 1 patient (4%). Of the 23 women treated surgically, 16 (70%) were treated using a Gore-Tex wrap, while 7 had other surgical procedures including colposuspension and hysterosacrocolpopexy. In the Gore-Tex wrap group, 12 out of 16 patients (75%) had had a successful result after the first repair compared with 2 out of the 7 patients (28%) in the group treated using other procedures. Mean follow-up was 8 years (range 1-15). One patient developed an infection after the procedure and another patient had Gore-Tex erosion. CONCLUSIONS: Prolapse is a common gynaecological complaint in adult women with bladder exstrophy and the majority will require treatment. At present the Gore-Tex wrap offers good results with a low rate of serious complications.

Remnant functioning cervical tissue after laparoscopic removal of cavitated noncommunicating rudimentary uterine horn.

Cavitated noncommunicating rudimentary uterine horn is managed via surgical removal. During the past 20 years this has been performed primarily via laparoscopy. At our multidisciplinary specialized center, this condition has been treated in 29 patients over 10 years. Three patients had pelvic pain and recurrent symptoms of menstrual obstruction at 2, 5, and 6 years after the initial operation. Magnetic resonance imaging revealed blood-filled pelvic masses at the site of the previous procedures. After laparoscopic removal of these masses, histologic analysis confirmed the presence of remnant functioning cervical tissue. This is the first report of long-term follow-up of patients with a history of obstructed rudimentary uterine horn to demonstrate that complications can occur several years after such operations. It is essential that any reports of recurrent pain should be considered seriously and investigated.

A Single-Center, Observational Study of 607 Children and Young People Presenting With Differences of Sex Development (DSD).

Context: Differences of sex development (DSD) represent a wide range of conditions presenting at different ages to various health professionals. Establishing a diagnosis, supporting the family, and developing a management plan are important. Objective: We aimed to better understand the presentation and prevalence of pediatric DSD. Methods: A retrospective, observational cohort study was undertaken in a single tertiary pediatric center of all children and young people (CYP) referred to a DSD multidisciplinary team over 25 years (1995-2019). In total, 607 CYP (520 regional referrals) were included. Data were analyzed for diagnosis, sex-assignment, age and mode of presentation, additional phenotypic features, mortality, and approximate point prevalence. Results: Among the 3 major DSD categories, sex chromosome DSD was diagnosed in 11.2% (68/607) (most commonly 45,X/46,XY mosaicism), 46,XY DSD in 61.1% (371/607) (multiple diagnoses often with associated features), while 46,XX DSD occurred in 27.7% (168/607) (often 21-hydroxylase deficiency). Most children (80.1%) presented as neonates, usually with atypical genitalia, adrenal insufficiency, undescended testes or hernias. Those presenting later had diverse features. Rarely, the diagnosis was made antenatally (3.8%, n = 23) or following incidental karyotyping/family history (n = 14). Mortality was surprisingly high in 46,XY children, usually due to complex associated features (46,XY girls, 8.3%; 46,XY boys, 2.7%). The approximate point prevalence of neonatal referrals for investigation of DSD was 1 in 6347 births, and 1 in 5101 overall throughout childhood. Conclusion: DSD represent a diverse range of conditions that can present at different ages. Pathways for expert diagnosis and management are important to optimize care.

Emotional and sexual wellness and quality of life in women with Rokitansky syndrome.

OBJECTIVE: The objective of the study was to investigate health, well-being, and sexual function in women with Rokitansky syndrome. STUDY DESIGN: Fifty-eight women with Rokitansky syndrome completed 4 questionnaires assessing health-related quality of life, emotional distress, and sexual function and attended for a vaginal examination. RESULTS: Participants reported better overall physical health and poorer overall mental health compared with normative data. Anxiety levels were higher, especially for women who had undergone vaginal treatment. Sexual wellness and function scores were poor. Mean vaginal length was 5.4 cm and was greater in women currently sexually active. Vaginal length had a positive correlation with overall sexual satisfaction but was not related to overall quality of life. CONCLUSION: Rokitansky syndrome has a negative impact on emotional and sexual wellness. Relationships between physical and psychological parameters are complex and require further exploration. There is a need for better treatment studies using prospective methodology to assess the effects of surgical and nonsurgical treatments.

Pubertal development and sexuality in female adolescents born preterm: a review of the literature.

INTRODUCTION: Premature infants, especially very low birth weight infants, and fetal growth restriction are a challenge for healthcare professionals alike owing to the consequences of these conditions. OBJECTIVE: To provide information for gynecologists, pediatricians and neonatologists to identify correct outcome expectations to help them plan their preventive and therapeutic actions. Searches were made on the MEDLINE database. RESULTS: According to several follow-up studies, there is an increasing evidence for a link between early life exposures (prenatal and postnatal) and long-term outcomes. An adverse in utero environment will induce fetal reprogramming of neuroendocrine axes with permanent alterations of the physiology and metabolism of various body structures and functioning of neuroendocrine axes in later life, leading to a variety of different conditions, such as persistence of neurodevelopmental disability, changes in growth pattern, in body metabolism, in pubertal development, lower educational achievement and even psychological disturbances with possible alterations of sexual behavior in female adolescents and young adults. In addition, short-term transitory consequences can be also present, such as anomalies in genital appearance. CONCLUSIONS: Outcome studies on the impact that prematurity, low birth weight and intrauterine growth restriction have on pubertal development, sexuality and fertility are still scarce. Long-term outcomes of small for gestational age or preterm adolescents are complex and multifactorial, with interactions between genetic and environmental influences involving different pathways of adaptive responses during crucial phases of prenatal growth.

Epidemiological surveillance study of female genital mutilation in the UK.

OBJECTIVES: Describe cases of female genital mutilation (FGM) presenting to consultant paediatricians and sexual assault referral centres (SARCs), including demographics, medical symptoms, examination findings and outcome. DESIGN: The well-established epidemiological surveillance study performed through the British Paediatric Surveillance Unit included FGM on the monthly returns. SETTING: All consultant paediatricians and relevant SARC leads across the UK and Ireland. PATIENTS: Under 16 years old with FGM. INTERVENTIONS: Data on cases from November 2015 to November 2017 and 12 months later meeting the case definition of FGM. MAIN OUTCOME MEASURES: Returns included 146 cases, 103 (71%) had confirmed FGM and 43 (29%) did not meet the case definition. There were none from Northern Ireland. RESULTS: The mean reported age was 3 years. Using the WHO classification of FGM, 58% (n=60) had either type 1 or type 2, 8% (n=8) had type 3 and 21% (n=22) had type 4. 13% (n=13) of the cases were not classified and none had piercings or labiaplasty. The majority, 70% had FGM performed in Africa with others from Europe, Middle East and South-East Asia. There were few physical and mental health symptoms. Only one case resulted in a successful prosecution. CONCLUSIONS: There were low numbers of children presenting with FGM and in the 2 years there was only one prosecution. The findings may be consistent with attitude changes in FGM practising communities and those at risk should be protected and supported by culturally competent national policies.

Mutations in the hepatocyte nuclear factor-1ß (HNF1B) gene are common with combined uterine and renal malformations but are not found with isolated uterine malformations.

OBJECTIVE: Congenital uterine abnormalities are common and may be associated with developmental renal abnormalities. Mutations of the hepatocyte nuclear factor-1ß (HNF1B) gene are associated with renal and uterine abnormalities. We aimed to study the role of HNF1B mutations in a cohort with congenital uterine abnormalities. STUDY DESIGN: We tested 108 probands with uterine abnormalities for HNF1B mutations. We collected clinical information from patient records. RESULTS: Nine of 108 women (8%) had a mutation or deletion in the HNF1B gene. Abnormal HNF1B was found in 18% of the 50 probands who had both uterine and renal abnormalities but in none of the 58 women with isolated uterine abnormalities. CONCLUSION: Mutations of the HNF1B gene are found in women with both uterine and renal abnormalities but are rare in isolated uterine abnormalities. We suggest that HNF1B testing should be performed in patients with both renal and uterine abnormalities, but not in patients with isolated uterine abnormalities.