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.

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.

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.

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.

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.

Hiperandrogenismo transitorio en 2 gemelas prematuras expuestas a antirretrovirales / Transient hyperandrogenism in 2 preterm twins with exposure to antiretrovirals

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Restoring normal anatomy in female patients with atypical genitalia.

Female patients with congenital adrenal hyperplasia (CAH) have varying degrees of atypical genitalia secondary to prenatal and postnatal androgen exposure. Surgical treatment is focused on restoring normal genitalia anatomy by bringing the vagina to the normal position on the perineum, separating the distal vagina from the urethra, forming a normal introitus and preserving sexual function of the clitoris by accepting moderate degrees of hypertrophy as normal and strategically reducing clitoral size only in the most severely virilized patients. There remains a need for continued monitoring of patients as they go through puberty with the possibility of additional surgery for vaginal stenosis. Anatomically based surgery and refinement in surgical techniques with acceptance of moderate degrees of clitoral hypertrophy as normal should improve long-term outcomes.

Male and female aphallia associated with severe urinary tract dysplasia.

INTRODUCTION: Aphallia is exceedingly rare (1/30 million births). Previous reports have provided limited detail on associated urinary tract findings. OBJECTIVE: We reviewed urinary tract anomalies in two boys with aphallia (patients 1 and 2) and a girl with urinary tract dysplasia, a similar external appearance and lack of corporal tissue (patient 3), also consistent with aphallia. CASE REPORTS (FIGURE): Patients 1 and 2 both had a 46XY karyotype, bilateral descended testes in well-formed scrotums, and posterior skin tags containing rudimentary urethras. Patient 1 had a focal area of urethral narrowing; a posterior bladder diverticulum, which drained a ureter; bilateral grade 5 vesicoureteral reflux, with a right partial renal duplication; and hydronephrosis of all moieties. Patient 2 had posterior urethral valves and a bladder diverticulum. Right ureterovesical junction obstruction required a tapered reimplant and later conversion to right-to-left transureteroureterostomy. Patient 3 had a 46XX karyotype and fused, well-formed labia majora. A posterior skin tag was associated with a stenotic urogenital sinus, beyond which were a vagina posteriorly and a right refluxing ureter anteriorly. The left ureter was absent, and a miniscule pouch represented a maldeveloped or absent bladder. Laparoscopy revealed ovaries and normal Müllerian structures. Bilateral renal dysplasia necessitated renal transplant and the creation of an ileocecal neobladder and Mitrofanoff channel. Corporal tissue was diminutive or absent in all. DISCUSSION: We see from these three patients that corporal tissue absence can occur in both male and female patients. We propose that the term aphallia can apply to both sexes, as it is the absence of corporal tissue that defines this condition. This is the only report to include and characterize findings in both male and female aphallia patients. Labioscrotal folds develop with a smooth appearance, and, posteriorly, a urethral orifice or Urogenital (UG) sinus with skin tag may be seen. Obstruction at the level of the urethra was common. Severe urinary tract dysplasia was seen in all, a finding not consistently seen or characterized in previous reports. CONCLUSION: In girls with severe urinary tract dysplasia and characteristic genital ambiguity, aphallia should be considered. Co-occurrence of aphallia and severe urinary tract dysplasia warrants further urinary tract imaging in all aphallia patients, including voiding cystourethrography, renal bladder ultrasound, and serum creatinine level. Urinary tract reconstruction may be performed without hampering future penile reconstruction, due to modern phallic reconstructive techniques.

Clitoral Abnormalities in the Absence of Virilization: Etiology and Treatment Strategies.

OBJECTIVE: To report 3 cases of pseudoclitoromegaly and to describe the strategies used for differential diagnosis and treatment. METHODS: Three cases and a literature review were described in this study. RESULTS: Three cases referred for treatment of clitoromegaly were in fact cases of pseudoclitoromegaly caused by a hamartoma, a neurofibroma, and a hemangioma of the clitoral prepuce. Abnormal virilization was excluded and the tumors were successfully treated by surgical resection and genital esthetic reconstruction. CONCLUSION: Clitoral abnormalities not associated with virilization syndromes are rare. Isolated abnormalities may affect the clitoris and the clitoral prepuce (pseudoclitoromegaly) and have multiple causes. The most frequent are inclusion cysts secondary to female circumcision, but a multiplicity of tumors, usually benign, may be found. Treatment is surgical, except for most infantile hemangiomas. Before deciding to offer surgical treatment, one should consider the degree of genital deformity and the risks of sensitivity loss and/or clitoral ischemia.

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.

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.

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.

[Blood cell chimerism in dizygotic twins conceived by in vitro fertilization]. / Quimerismo hemático en gemelos dicigóticos concebidos por fertilización in vitro.

We present a case of hematopoietic chimerism in dizygotic twins (male and female) conceived by in vitro fertilization (IVF). At 8 years of age a blood karyotype was performed on the female due to the presence of clitoromegaly. Two different lines: 46,XX (53%) and 46,XY (47%) were found. FISH studies confirmed the presence of the SRY gene in 46,XY cells. Karyotyping of the male showed two different lines: 46,XY (58%) and 46,XX (42%). SRY gene was present in 46,XY cells. Microsatellite analyses of blood DNA revealed tetra-allelic contribution at some autosomal loci with similar proportions of maternal and paternal alleles and X/Y chromosome dose. FISH in buccal mucous showed that all cells from the female were 46,XX and those from the male 46,XY. The gonadal karyotype in the female was 46,XX without SRY. Hence, we report 46,XX/46,XY chimerism in dizygotic twins. Blood chimerism was confirmed by performing FISH on the buccal cells of the patients.

Persistent unexplained congenital clitoromegaly in females born extremely prematurely.

OBJECTIVE: Unexplained clitoromegaly is a rare but well recognised feature in girls born premature. Although detected at birth, girls may re-present during childhood to paediatric urologists and gynaecologists who should be aware of this condition. The aim of the study was to describe the clinical findings and management of a series of girls presenting with persistent congenital clitoromegaly associated with prematurity. MATERIALS AND METHODS: This was a retrospective notes review set in a tertiary referral centre for Paediatric and Adolescent Gynaecology (PAG). RESULTS: Eight girls with a mean age of 6 years were seen over an eight year period. In all cases a Disorder of Sex Development (DSD) had been previously excluded. The main symptoms were discomfort or concern about appearance. On examination five girls had excess skin over the clitoris and three had enlarged corporal tissue. Management included reassurance and simple measures to ease discomfort. In two cases the parents requested referral to a paediatric urologist to consider clitoral surgery. CONCLUSION: As survival rates for extreme prematurity improve, paediatric urologists and gynaecologists are likely to see more of these cases. Clinicians must be familiar with this condition to ensure children are managed appropriately.