P450 oxidoreductase deficiency with maternal virilization during pregnancy.

PURPOSE: The authors report on a rare case of maternal virilization during pregnancy caused by autosomal recessive P450 oxidore- ductase (POR) deficiency. MATERIALS AND METHODS: A 24-year-old primigravida developed a deepening voice and hirsutism in the second trimester. Prenatal ultrasonography failed to detect any fetal abnormality and fetal growth was normal. POR deficiency was suspected, but the mother declined fetal genetic testing. A female neonate was delivered by cesarean section at 41 weeks' gestation. RESULTS: The neonate had skeletal abnormalities. Mutational analysis of the POR gene demonstrated homozygosity for c.1370 G>A and p.R457H in the patient and heterozygosity in her parents. POR deficiency was confirmed in the neonate. CONCLUSION: POR deficiency should be suspected in cases of maternal virilization. Maternal urinary estriol, fetal magnetic resonance imaging, and parental genetic testing should be performed. Parental consent for fetal genetic testing should be sought to ensure prompt diagnosis and early treatment.

Small bowel surgery for the gynecologist specializing in benign disease.

INTRODUCTION: Adhesions are fibrous bands of scar tissue that are often a result of surgery. Adhesions of the bowel are a common finding during gynecologic procedures, and their presence can lead to injury. METHOD: This video article demonstrates enterolysis and small-bowel surgery in women undergoing surgery for a benign gynecologic condition and found to have severe adhesive disease. CONCLUSION: Small bowel surgery is best carried out using a team approach. Surgeons should be especially vigilant about injury to the bowel in patients undergoing extensive adhesiolysis or enterolysis.

Clitoral prepucioplasty with anterior commissure transposition: a case report and description of a new, minimally invasive surgical technique.

BACKGROUND: Clitoral prepucioplasty is a new surgical intervention for clitoral prepuce reconstruction. This procedure has not been described previously in the literature. CASE: A 21-year-old, Caucasian woman, G0P0, presented with aesthetic concerns about her external genital anatomy, particularly the area surrounding the clitoral prepuce, which had significant excess folds of tissue on both sides. She underwent a new surgical procedure: clitoral prepucioplasty with anterior commissure transposition. The redundant clitoral prepuce reconstruction with anterior commissure was performed under local anesthesia. Postoperatively, she gave an account of no feelings of regret about having the operation, and her negative emotional-social feelings about her anatomic aberrations, clitoral area unattractiveness, sexual undesirability, embarrassment during sexual contacts, very low self-perceived body image, and decreased quality of intimate and social life had subsided. No intraoperative or postoperative complications were observed. CONCLUSION: The redundant clitoral prepuce reconstruction was easy to perform and resulted in aesthetically pleasing outcomes, improved quality of life, improved self-perceived body image, and increased sexual desire and frequency.

Aesthetic surgery of female external genitalia.

Aesthetic surgery of the external genitalia in women encompasses many procedures and may address the labia minora, clitoral hood, labia majora, mons pubis, or vaginal opening. During the initial evaluation, the surgeon should consider all aspects of the external genitalia to develop an appropriate surgical plan. It may be necessary to perform 2 or more procedures during the same surgical session to achieve the desired aesthetic result. In this continuing medical education (CME) article, we review the literature and summarize the available cosmetic techniques for female external genitalia. Resection of the labia minora has been described in several peer-reviewed reports. We also discuss the procedures and modifications to direct resection, wedge resection, and deepithelialization of the labia minora. Aesthetic surgery of the clitoral hood may involve straight-line resection, extended wedge resection, or inverted V hoodoplasty. The mons pubis may be treated with mons pubis pexy, wedge resection, or lipomodeling. The labia majora can be managed with direct resection or lipomodeling, and hymenoplasty may be performed to correct a wide vaginal opening.

[Clitoromegaly--treatment with the harmonic knife (case description)]. / Przerost lechtaczki--leczenie z zastosowaniem noza harmonicznego (opis przypadku).

Clitoromegaly, state when clitoris is non-physiologically large, most frequently occurs among patients with endocrine disorders (adrenal-genital syndrome, hormonally active tumors producing androgens, the use of anabolic steroids) or genetic. Less often the clitoromegaly is idiopathic of unknown etiology. There are no fixed standards for the size of organ, but it is assumed that not being in erect clitoris due to sexual arousal has a diameter of no more than 1/2 cm. To assess the size and shape of the clitoris can be used five Prader scale. However, it is most commonly used to assess the genitals of intersex. To the Clinic of Gynecology Oncology and Gynecology reported a 33 year old female patient because of escalating discomfort in sexual life. Patient associated her discomfort with her overly enlarged and painful clitoris preventing its proper coexistence. Gynecological survey found the correct size uterus and appendages. Vestibule of the vagina and the vagina of normal length and width. Larger and smaller labia developed properly. Clitoris increased to approximately 4x2 cm, not swollen, moving, with a uniform consistency. Except clitoromegaly in initial examination no abnormalities were found. Prior to surgery the patient has identified karyotype (46 XX) and has made designation of the levels of sex hormones and sonographic examination. In conducting these studies there was no answer found for the reason of clitoromegaly, there was the idiopathic overgrowth stated. Because of the pain during cohabitation associated with clitoromegaly, the patient was classified for reducing operation of this organ. For fear of the possibility of organ dysfunction, excessive bleeding and the appearance of postoperative adhesions abandoned classical surgical technique. It was decided to use in this operation, the harmonic knife. The use of harmonic knife allows avoiding introperative bleeding and precise, a partial reduction of the clitoris to the considered correct size without damaging of the organ structures. A month after surgery, the patient started having satisfying sex without feeling any pain and preserving proper function of the clitoris.

Fetal transient clitoromegaly and transient hypertrophy of the labia minora in early and mid pregnancy.

OBJECTIVE: The purpose of this study was to describe a series of cases of transient changes in the female fetal external genitalia. METHODS: In our practice area, most pregnant women usually undergo a detailed sonographic survey of all fetal organs, including the external genitalia in early and mid pregnancy. RESULTS: During the study period (1987-2010), 62,145 consecutive pregnant women were scanned. We detected 4 fetuses with an isolated finding of clitoromegaly at 15 to 16 weeks' gestation, which disappeared at 22 to 26 weeks. Maternal hormonal study results were normal. There was 1 case of clitoromegaly and a cloacal anomaly at 15 weeks' gestation, in which the clitoris retuned to a normal size at 22 weeks. In addition, there were 3 cases of hypertrophy of the labia minora in early pregnancy, which disappeared at 26 to 32 weeks. All fetuses in these series had a normal XX karyotype and normal external genitalia at birth. CONCLUSIONS: Transient changes in the appearance of the fetal external genitalia may occur in chromosomally normal female fetuses.

Clinical and diagnostic approach of male pseudo hermaphroditism with os-clitoris in French bulldog: A case report.

INTRODUCTION: Hermaphroditism is less frequently reported in dogs and is often associated with infertility. CASE REPORT: An 8-month-old French bulldog weighing 5 kg with an enlarged structure protruding from the vulva was clinically diagnosed with hermaphroditism. Physical, hormonal assay, computed tomography, and gross and histological studies were done in addition to successfully detailed surgical correction. On physical examination, the dog showed the presence of an os-clitoris protruded from the vulvar labia. Hormonal levels of estradiol, testosterone, and progesterone were 6.39 pg/ml, 0.4 ng/ml, and 8.67ng/ml, respectively. Surgical removal of internal gonadal tissues and os clirectomy operations were conducted after the exploratory laparotomy. The removed gonadal tissues were identical to that of a female with testicles instead of ovaries, according to a gross examination. Histological examination confirmed gonads as testis, with inactive seminiferous tubules and epididymis attached to uterine horns. CONCLUSION: The congenital anomalies in the present case were diagnosed as male pseudohermaphroditism (MPH). Surgical correction was performed, and the owner's satisfaction was achieved.

Female congenital aphallia: a unique case of congenital absence of the clitoris with an ectopic labium majorum.

The spectrum of disorders of sexual development includes anatomical abnormalities of the external genitalia, the phenotypic variability of which and the underlying causes are numerous. However, female aphallia and ectopia of the labium majorum appear to be some of the rarest forms of external genitalia malformations. Aphallia is mostly described in males with a frequency of less than one per 40 000 male newborns. Although syndromic forms of aphallia in females have been reported, for example, in Robinow, CHARGE, and Prader-Willi syndrome, reports of isolated female aphallia are meager. Here, we describe the first case of isolated agenesis of the clitoris with an ectopic labium majorum and review the literature of this uncommon malformation and its potential dysmorphogenetic mechanism. We emphasize the need for a routine exhaustive physical examination to identify and characterize this unusual malformation correctly so that families can be appropriately counseled as to cause and potential complications.

Microscope-assisted reduction clitoroplasty used to treat two patients with clitoromegaly.

We report 2 cases of clitoromegaly, 1 in a patient with true hermaphroditism, and the other in a patient with adrenogenital syndrome. Both were treated surgically with reduction clitoroplasty. There are 3 different clitoroplasty procedures: clitorectomy, clitoral recession, and reduction clitoroplasty. Reduction clitoroplasty with preservation of the neurovascular bundle is considered superior in terms of formation of the external genitals and sensation. However, the disadvantages are that detachment of the neurovascular bundle from the clitoral shaft is difficult and that there is a high possibility of sensory and blood flow disorders in the clitoris. In an attempt to achieve safe and reliable surgical manipulation, we used a surgical microscope (OPMI 6-SDFC, Carl Zeiss Surgical GmbH, magnification x8) to detach the neurovascular bundle from the clitoral shaft in our 2 patients. Our impression is that our efforts were extremely effective. Furthermore, our experience leads us to believe that the procedure for neurovascular bundle detachment required in reduction clitoroplasty is not particularly difficult if performed with a surgical microscope by a plastic surgeon who regularly performs microsurgery. Because the procedure can be performed simply and safely, we believe that reduction clitoroplasty with preservation of the neurovascular bundle is the best overall of the 3 clitoroplasty procedures.

Urethral Duplication With clitoral Voiding: A Rare Presentation.

Urethral duplication in a female is a rare congenital anomaly. The clinical presentation varies from being asymptomatic to double stream, incontinence, genital anomalies, and urinary infections. The management is also tailor made to the clinical presentation. We describe a case of urethral duplication in an adult female who presented to us with clitoral voiding.

The Nomogram of Clitoral Length and Width in Iranian Term and Preterm Neonates.

Background and Objectives: Clitoromegaly is an important parameter in the evaluation of ambiguous genitalia in neonates, but the normative data for clitoral size in newborns have racial/ethnic differences. The present study aimed to determine clitoral length (CL) and clitoral width (CW) values and establish cutoff measurement to define clitoromegaly in both term and preterm Iranian neonates for the first time. Methods: A total number of 580 female newborn infants delivered at 28-42 weeks of gestation were enrolled in the study, and their CL and CW were measured on the first 72 h of birth. Data about birth weight (BW), body length (BL), and head circumference (HC) of newborns; mothers' age; and gestational age (GA) were recorded, too. Results were presented as mean ± standard deviation (SD) for quantitative variables and were summarized by frequency (percentage) for categorical variables. Backward stepwise regression analysis was used for prediction of CL and CW. Results: Among 580 Iranian female newborns studied, 187 were term neonates and the other 393 newborns were preterm. Mean ± SD values of CL were 6.11 ± 0.39 mm in term infants and 5.45 ± 0.64 mm in preterm infants (P < 0.001). Mean ± SD values of CW were 4.22 ± 0.43 in term infants and 3.68 ± 0.53 in preterm infants (P < 0.001). Regression analysis showed that CL was correlated with GA considered by last menstrual period, BL, BW, and HC; and CW was associated with GA, BL, and BW. Conclusion: This study suggests normative values (mean + 1, 2, and 3 SD) of CL and CW according to GA, which can be used as a reference for Middle East's newborns, especially Iranian newborn babies.

Female epispadias.

Female epispadias without exstrophy is a rare malformation occurring in 1 in 117,000 male and 480,000 female population. It is imperative that a thorough local examination be performed ideally at birth so the diagnosis and the later psychosocial and psychosexual problems could be prevented. Although, on occasions when the apparent malformation is not that predominant, epispadias can be missed at birth and is diagnosed when the child (usually female) remains wet after toilet training. Reconstructive surgery of the urethra and bladder neck improves the outcome in case of early intervention.

A patient with an interstitial duplication of chromosome 5p11-p13.3 further confirming a critical region for 5p duplication syndrome.

Partial or complete trisomy 5p has been associated with characteristic facial features, developmental delay, seizures, congenital heart defects, and respiratory compromise. We present a child with developmental delay, seizures, and congenital cardiac anomalies found to have a previously unreported de novo interstitial duplication of chromosome 5p, 46,XX,dup(5) (p11p13.3). The breakpoints of the duplication were further confirmed by fluorescence in situ hybridization analysis using bacterial artificial chromosome probes specific for the affected region. Comparison with previously reported cases of patients with duplications of 5p suggests loci of interest for both congenital heart anomalies and seizures.

A female infant with Silver Russell Syndrome, mesocardia and enlargement of the clitoris.

Silver Russell Syndrome (SRS) is a rare condition (1/3000 - 1/100,000 newborns). We present a female infant with SRS, cardiac malposition and asymmetric enlargement of the clitoris. She is the first child of Greek nonconsanguinous parents, born at 38 weeks gestation, following in vitro fertilisation (IVF). The patient had intrauterine growth retardation, body asymmetry, enlarged clitoris, hemihypertrophy of external genitalia and features characteristic of SRS. Electrocardiography and chest X-rays revealed a median position of the heart. The infant fulfilled the criteria proposed by Price et al for SRS. Genetic analysis did not reveal mUPD of chromosome 7. This is the first report of a patient with SRS presenting ìmesocardiaî and asymmetric enlargement of the clitoris. Our case constitutes another paradigm of SRS following IVF, which possibly supports the hypothesis that IVF may be associated with higher prevalence of SRS than natural fertilisation.

Clitoromegaly in Childhood and Adolescence: Behind One Clinical Sign, a Clinical Sea.

The clitoris is a highly complex organ whose structure has only been clarified in recent years through the use of modern imaging techniques. Clitoromegaly is an abnormal enlargement of this organ. It may be congenital or acquired and is usually due to an excess of androgens in fetal life, infancy, or adolescence. Obvious clitoromegaly in individuals with ambiguous genitalia is easily identifiable, whereas borderline conditions can pass unnoticed. Case reports of clitoromegaly with or without clinical or biochemical hyperandrogenism are quite numerous. In these subjects, a comprehensive physical examination and an accurate personal and family history are needed to investigate the enlargement. We reviewed the literature on the conditions that may be involved in the development of clitoromegaly in childhood and adolescence.

Primary amenorrhoea and clitoromegaly in a nulliparous woman: successful medical and surgical management.

Clitoromegaly is an important sign of virilisation and poses difficulty in sex determination, when present since birth. The diagnosis and treatment in an adult is a major challenge to the treating gynaecologist. The primary reason for its development is androgen excess due to congenital adrenal hyperplasia, polycystic ovarian syndrome, ovarian virilising tumours, neurofibromas, adrenal neoplasm and prolonged intake of anabolic steroids. A case of young nulliparous married woman who presented with primary amenorrhoea and clitoromegaly and was managed successfully has been reported.