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We describe an unusual presentation of a rare Leydig tumor presenting in bilateral ovaries that are otherwise normal in size for postmenopausal women. A 66-year-old woman presented with postmenopausal bleeding and during her work-up acutely developed clitoromegaly. Her diagnostic work-up revealed a 1.8 cm left ovarian complex cyst and extremely elevated testosterone levels. Management included hysterectomy and bilateral salpingo-oophorectomy. Final pathology revealed Leydig tumors in the bilateral ovaries. This case discusses a rare presentation of a rare tumor and highlights the importance of a thorough examination of the female genitalia and investigation for root cause.

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Introduction The purpose of this study was to present the prenatal sonographic findings of external genital anomalies and determine diagnostic clues. Methodology In a single-center retrospective study, a total of 15,320 pregnant women underwent a routine ultrasound (US) screening between 18 and 40 weeks of gestation from March 2015 to January 2022. The fetuses with indeterminate sex and suspected genital anomalies were enrolled in the study. B-mod and three-dimensional (3D) imaging of the external genital organs were performed according to a local protocol in cases of genital anomalies. Prenatal and postnatal data were retrieved from the electronic health records. Results A total of 88 fetuses were included in the study. The prevalence of external genital anomalies was found to be 0.6%, and the degree of correspondence (DC) between prenatal and postnatal diagnoses of external genital anomalies was 94.3%. The most common genital anomaly was hypospadias with a frequency of 59%. Severe hypospadias was detected in five of six cases with chordee where the penoscrotal angle was below 30°. Approximately 70% of clitoromegaly cases with labial hypertrophy had a horseshoe sign on 3D images. Conclusions The DC between prenatal and postnatal diagnoses of external genital anomalies is high in this study. The novel diagnostic clues, such as horseshoe sign and penoscrotal angle may be useful in diagnosing and determining the severity of the external genital anomalies.

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OBJECTIVES: To establish gestation-wise normative data of external genitalia measurements in North Indian term and preterm female newborns. METHODS: In this cross-sectional descriptive study, institutionally-born female neonates between 28-42 wk gestation were consecutively enrolled between 24-72 h of life. Newborns with major congenital malformations, chromosomal anomalies, multifetal gestation and birth injuries were excluded. Data on various genital measurements were collected [Clitoral length (CL), clitoral width (CW), ano-clitoral distance (AGDAC), ano-fourchette distance (AGDAF) and anogenital ratio (AGR)]. RESULTS: One hundred ninety-eight of 508 neonates (39%) were preterm and 310 (61%) were term. Mean (± SD) CL and CW were 4.6 ± 1.8 mm and 3.9 ± 1.6 mm, respectively. Mean (± SD) values for AGDAF, AGDAC and AGR were 9.3 ± 1.8 mm, 30.2 ± 3.9 mm, and 0.31 ± 0.05, respectively. According to these results, term female newborns with CL more than 7 mm and/or CW more than 6 mm (95th centile) warrant evaluation for clitoromegaly. An anogenital ratio greater than 0.45 should be considered as a sign of virilization in a female neonate. Gestation-wise percentile charts for CL, CW, AGDAF, AGDAC and AGR were generated. CONCLUSIONS: The percentile values defined in the study can serve as local normative data for accurate interpretation of genital measurements in North Indian female newborns and enable health care professionals for early identification of genital virilization.

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Background and objectives: We herein reported ten, female neonates with transient clitoral preputial edema, which was mistaken for clitoromegaly. Although it is well known that the clitoris is prominent in premature, female neonates, there are as of yet no reports of clitoral preputial edema in full-term neonates. The present study was conducted to clarify the clinical course of clitoral preputial edema. Methods: Seventeen, Japanese patients aged < 6 months with suspected clitoromegaly were enrolled, and their clinical course was analyzed retrospectively. Clitoral preputial edema was defined by 1) a normal clitoral glans despite edema; and 2) the absence of established differences of sexual development, such as 21-hydroxylase deficiency. Results: Ten of the 17 patients with suspected clitoromegaly had clitoral preputial edema; eight of the ten patients were full-term, and the remaining two were preterm neonates. The median age at the first visit was 8 days. Edema of the labia minora and labia majora, rugosity of the labia majora, and hymenal polyps often accompanied the clitoral preputial edema. Seven patients were examined at our division during the neonatal period, and three patients were examined in the post-neonatal period. Age at reduction of the clitoral width to < 7 mm ranged from 8 to 74 days in four of the seven neonatal patients. In the three post-neonatal patients, age to reduction in the clitoral width ranged from 107 to 243 days. Conclusions: Transient clitoral preputial edema is often mistaken for clitoromegaly. The key to diagnosing clitoral preputial edema lies in its characteristic appearance and improvement course.

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A 7-year-old girl presented with painful genital enlargement, which was first believed to be clitoromegaly of hormonal origin. However, on the physical exam the clitoris was not visible and the prepuce and labia minora were enlarged and tender. Magnetic resonance imaging demonstrated an infiltrative abnormal signal with restricted diffusion involving the enlarged clitoris and adjacent soft tissues of the prepuce and labia minora, confirming a nonhormonal infiltrative malignancy. The same abnormal signal was present in enlarged inguinal lymph nodes, the kidneys, and an anterior mediastinal mass. The pathologic diagnosis was T-cell acute lymphoblastic leukemia.

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Objective: To describe the technique and assess long term effects of neurovascular bundle-sparing adult clitoroplasty on clitoral functions in patients. Material and Methods: A case series study enrolling three patients diagnosed with adult clitoromegaly who underwent neurovascular bundle-sparing ventral clitoroplasty operation. All of the patients were examined at the first, third, sixth, twelfth and twenty-fourth months post-operatively to evaluate clitoral functions. Results: Three patients diagnosed with adult clitoromegaly, aged 17, 21 and 24 years, were enrolled in the study. The primary complaint of all patients was unpleasant enlarged appearance and hypersensitive clitoris. Mean calculated clitoral index was 143 mm2, 150 mm2, and 120 mm2. Operation time was 90, 140 and 120 minutes, respectively. No major complication occurred during the operation but moderate ecchymosis and edema of the vulva occurred in all patients, lasting up to three weeks. On follow up examination, partial sensorial loss was noted at the first month in one patient, which completely resolved by the third month and beyond. Two patients who were sexually active reported that they were very comfortable with intercourse and cosmetic appearance. No clitoral enlargement or pain were reported by patients through the 24-month follow up period. Conclusion: Neurovascular bundle-sparing ventral clitoroplasty is a safe and cosmetically acceptable procedure, which effectively preserves the neurovascular bundle and long-term clitoral functions.

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Genital anomalies are a heterogeneous group of congenital pathologies that have become increasingly relevant since the Chicago Consensus of 2005. Their postnatal diagnosis has developed significantly in the last two decades, while prenatal diagnosis seems to be underdeveloped, with few protocols available, fragmented scientific literature, and low diagnostic rates. This review aims to examine the current status of this subspecialty from the perspective of prenatal imaging. Indications for the evaluation of fetal genitalia can be divided into medical and non-medical reasons. Medical reasons include sex-linked disorders, detection of other anomalies, relevant family history, or multiple pregnancy. Non-medical reasons include parental request for sex disclosure. Disclosure of fetal sex may be associated with ethical, legal, and medical issues. The main imaging technology used is 2D ultrasound, although there are other complementary techniques such as 3D, MRI, or Color Doppler. Regarding working methodology, several authors have drawn attention to the lack of standardized protocols and guidelines. Most guidelines tend to limit their recommendations to study indications and ethical issues. Technical proposals, measurements, or working methods have not yet been standardized. Fetal sex determination is usually divided into early and late gestation. Early gestation is based on the sagittal sign. Late gestation is based on direct visualization. There are several measurements to describe male and female genitalia, such as penile length, bilabial diameter, or scrotal diameter. Prenatal diagnosis of genital pathologies presents some particularities such as the wide spectrum of phenotypes, the high frequency of associated deformities, or the time of diagnosis. Some of the most frequent pathologies are ambiguous genitalia, fetal sex discordance, hypospadias, micropenis, clitoromegaly, ovarian cysts, hydro(metro)colpos, and cloacal anomalies. Higher-quality studies and direction from scientific societies through the implementation of clinical guidelines are needed.

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Clitoromegaly usually develops due to hyperandrogenism. There are a few cases of clitoromegaly described without clinical and biochemical hyperandrogenism. Clitoromegaly due to clitoral priapism and clitoral priapism after appendectomy have not been reported previously. A 7-year-old girl was referred for enlargement of the clitoris. She reported having a mild, pulsating clitoral pain starting three days after an appendectomy operation. Subsequently, painful swelling and an increase in the size of the clitoris was observed. Her growth and physical examination were otherwise normal. Causes of the clitoromegaly due to androgen excess were excluded after a comprehensive work-up. Color Doppler ultrasound revealed a high peak systolic velocity and resistance in the cavernosal artery, consistent with clitoral priapism. The clitoromegaly and associated symptoms improved significantly with oral pseudoephedrine and intracavernosal aspiration. This unique case illustrates that clitoral priapism is a rare, non-hormonal cause of clitoromegaly and may occur after appendectomy. Pseudoephedrine treatment is helpful in alleviating the symptoms.

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Clitoromegaly is the abnormal enlargement of the clitoris. Its etiology is often divided into congenital and acquired causes, leading to a differential diagnosis that is quite broad. Workup often includes serum hormone testing, imaging studies, and sometimes an investigation into genetic and nonhormonal causes, which can be obtained from a detailed patient history. Exposure to exogenous or endogenous androgens can directly stimulate and enlarge the clitoris, resulting in early virilization. Transdermal testosterone gel can be transferred from the skin of an adult to the skin of a child. Topical testosterone gel is an approved therapy for the treatment of hypoandrogenism in males. While it offers a convenient means of treatment, there is a concern about unintentional exposure to females and children from skin contact with the application site. Here, we report a case of an infant who presented to a pediatric endocrinology clinic for clitoromegaly that was possibly due to exogenous exposure to testosterone.

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Simple-virilizing congenital adrenal hyperplasia (CAH) is a rare disorder. The objective of this case report is to highlight the challenges in early diagnosis and the treatment of ambiguous genitalia so that a patient can be treated at an early stage and irreversible changes can be prevented. A 13-year-old child, assigned female at birth, presented with the chief complaints of primary amenorrhea. The patient also reported ambiguous genitalia, male pattern hair growth, and deepening of voice (which was progressive and first noted at six years of age). She was evaluated at six years of age but not by an expert. Ultrasound showed a normal uterus and bilateral ovaries, karyotyping XX pattern. On hormonal analysis, serum testosterone and dehydroepiandrosterone sulfate were raised but 17-hydroxyprogesterone (17-OHP) was low; this was against the diagnosis of CAH. As 17-OHP was not raised, we performed a computerized tomography scan, which showed adrenal hyperplasia. A repeat 17-OHP test showed a level of 2,000 ng/dL (>800 ng/dL is diagnostic of CAH). We highlight several challenges in the diagnosis of the simple virilizing form of CAH. The patient's primary complaint was primary amenorrhea, she herself did not think virilization to be important. Possibly due to social and financial issues, she had not received expert opinion in early childhood. We cannot rely solely on an investigation alone but need to see the patient as a whole. With proper and timely referral and diagnosis, we can limit serious morbidity in the form of virilization as treatments to prevent it are basic.

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INTRODUCTION AND IMPORTANCE: Amenorrhea can be a transient, intermittent, or permanent condition reflecting the overall health condition of a woman. Primary amenorrhea and ambiguous genitalia appearance warrant more comprehensive diagnosis and treatment, especially in those planning to have a married life. CASE PRESENTATION: A case a 24 years old woman was referred to our hospital with a chief complaint of primary amenorrhea. Previously, she was diagnosed with vaginal agenesis. However, a thorough examination revealed ambiguous genitalia and karyotype result of 46, XY. Following several rounds of discussion with the patient, her family, and her partner, she chose to remain a female and even planned to be married following the treatments. A vaginoplasty followed by clitoral reduction was done with a satisfactory result. CLINICAL DISCUSSION: Disorders of sex development and differentiation is a rare but devastating condition. Various biological, psychological, and social issues are surrounding those affected by it. The burden was further aggravated for those who are late to discover their condition, especially those planning to be married. CONCLUSION: Comprehensive and multidisciplinary approaches are needed to ensure the best outcome for DSD patients.

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We report an infant reared as a girl who presented with ambiguous genitalia and urine coming per rectum. On examination, she had minimal clitoromegaly with labial fusion and Y urethral duplication. On investigations, genetic, metabolic, and endocrine causes for disorder of sexual differentiation were ruled out. This girl was operated via a posterior sagittal approach. This case was unique in that the urogenital sinus was deviated posteriorly and opened in the anterior rectal wall and the accessory urethra opened in clitoris, along with ambiguity of external genitalia, thus making it a rare variant of the posterior cloaca. The diagnosis requires a high index of suspicion in clinician and a meticulous examination of the external genitalia. Very little literature is available for this rare anomaly. Few reports have classified them as female pseudohermaphroditism with cloacal and urogenital sinus defects. Hence, we hereby discuss and review the literature for previously reported cases.

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Background: Clitoromegaly is often a sign of androgen excess; however, non-hormonal causes must be ruled out. We report the case of an adolescent with isolated clitoromegaly without clinical or biochemical evidence of hyperandrogenism. Case: A 16-year-old female was referred due to a clitoromegaly of 12 months of evolution. Examination of the pubic region revealed normal female genitalia with an enlarged clitoris, 4 cm long and 2.5 cm wide. The clitoris was painless, soft on palpation, and mobile over deeper layers. There were no signs of virilization, and the patient did not report dysuria or difficulties with sexual intercourse. Her medical record was also unremarkable, with no female circumcision, family history of birth defects, or genital abnormalities. Hormone profile blood tests were normal. Pelvic ultrasound examination was normal, but a high-resolution scan with a linear transducer confirmed the presence of a cyst, lying anterior to the clitoral body and glans. The cyst was surgically removed with special care to preserve the clitoral neurovasculature. The pathological report disclosed an epidermoid clitoral cyst. The patient described emotional well-being, satisfactory sexual function, and no discomfort after a year of follow-up. Conclusion: Epidermal clitoral cysts represent an unusual cause of clitoromegaly. These cysts should be ruled out as a differential diagnosis after an exhaustive semiological and endocrinological examination.

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Plexiform neurofibroma (PN) involvement of the external genitalia in patients with neurofibromatosis type I (NF1) is a rare cause of nonhormonal clitoromegaly. We present a 3-year-old female with known NF1 who presented with clitoromegaly. She was identified with an extensive pelvic mass involving the bladder wall, perineum, labia, clitoris, rectum, and sacral foramina. A partial cystectomy was performed, and histopathology was consistent with PN. She has been initiated on a mitogen activated protein kinase enzyme kinase inhibitor, trametinib, which has been effective in achieving partial radiographic response of the bladder mass over 5 months. Additionally, she has experienced clinical response to trematinib with resolution of urinary urgency and frequency since initiating treatment.

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Beckwith-Wiedemann syndrome (BWS) is infrequently associated with adrenocortical carcinoma (ACC) or non-hormone-producing adrenal cytomegaly, but we recently, encountered a single case of adrenal cytomegaly in a patient with BWS, which was difficult to distinguish from androgen-producing adrenocortical carcinoma (ACC). Here, we describe the case of a 4-month-old female who presented with clitoromegaly, hemihypertrophy, and an adrenal mass identified during the prenatal period. The mass was located in detected at the left suprarenal region and detected at 20 weeks of gestational age. At birth, she also presented with clitoromegaly and elevated serum levels of 17α-hydroxyprogesterone, dehydroepiandrosterone, and testosterone at birth and experienced hyper-insulinemic hypoglycemia, which improved following diazoxide therapy. We initially suspected androgen-producing ACC with metastasis and the left adrenal mass was resected accordingly when the patient reached 4 months of age. However, histological examination revealed adrenal cytomegaly. Genetic analysis revealed paternal uniparental disomy, and the patient was finally diagnosed as having BWS. Resection of the left adrenal gland restored the serum androgen levels to normal physiological levels without any recurrence. While it is reasonably well known that BWS is sometimes accompanied by virilization due to androgen-producing ACC, our findings are among the first to suggest that adrenal cytomegaly can also increase androgen hormone production. Thus, we propose that adrenal cytomegaly should be considered one of the differential diagnoses when accompanied with hyperandrogenism in BWS patients.

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Neurofibromatosis is a rare genetic disorder that typically affects the nerves and causes benign tumors. It also affects different parts of the body, including the bone, skin, and genitourinary system. We report a case of a 6-year-old girl medically free who was referred to our institute with clitoromegaly and multiple café au lait spots on the skin. Clitoral mass excision was performed, and histopathology confirmed the diagnosis of clitoral plexiform neurofibroma as a primary presentation of Neurofibromatosis type I.

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BACKGROUND: The knowledge that preservation of clitoral sensation is essential for future sexual satisfaction gave rise to sensation-preserving clitoral reduction surgery. We present our results of sensation-preserving clitoral reduction procedure in the small group of patients. AIMS AND OBJECTIVES: To show our technique and result of sensation-preserving clitoral reduction surgery. MATERIALS AND METHODS: This is a retrospective study of cases with clitoromegaly, over a 5-year period, in which sensation-preserving clitoral reduction procedure was done by us at our centre. Demographics, indication for clitoral reduction, operative procedure, operative time, any intraoperative difficulty or problem, anaesthesia type, post-operative stay and outcome were analysed. Pre-operative and post-operative evaluation for clitoral viability done in all the cases, and evaluation for clitoral sensory testing and vibratory sensory testing done in selected cases. RESULTS: A total of eight cases were operated in the last 5 years. Five were due to congenital adrenal hyperplasia. Immediate post-operative period was uneventful in all. Cosmetic appearance and viability were satisfactory in all the cases. In five cases, clitoral sensory testing and vibratory sensory testing were done, an average degree of sensation of 3.2 at the labia minora and 4.7 at the clitoris and an average values clitoral vibratory sensory testing for the introitus, clitoris, labia and thigh were 3.56, 1.61, 5.08 and 5.83, respectively. CONCLUSIONS: Clitoral enlargement in girls is a rare problem. Sensation-preserving ventral clitoral reduction surgery leads to preservation of neurovascular bundles leads to acceptable cosmesis and preserved sensation.

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Androgen insensitivity syndrome (AIS) causes feminization of the external genitalia, in 46XY individuals. We report a notable case of partial AIS (PAIS), which was treated with ventral clitoroplasty and vaginal dilatation. The patient is a 17-year-old phenotypically female, presented with primary amenorrhea, infantile vagina, clitoromegaly, and presence of testes. Feminizing genitoplasty was done in form of ventral clitoroplasty with gonadectomy and was put on hormone replacement therapy and advised regular use of vaginal dilators to improve vaginal length. In ventral approach, the erectile tissues are excised without disturbing the neurovascular structure. Vibratory threshold perception of clitoris assessed by biothesiometer was normal 4 years after the surgery. Vaginal corrective surgery is not required when presentation is at later stage and has some vaginal depth to work out with vaginal dilators. Regular psychiatric consultations and support are needed in patients with PAIS to develop their confidence in gender identity and sexual orientation.

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Los tumores suprarrenales virilizante son infrecuentes y representan 5-6% de los tumores de esas glándulas1. Pueden secretar diferentes andrógenos como dehidroepiandrosterona sulfato (DHEAS), androstenediona y testosterona. Las características clínicas dependen de la edad de presentación; en niños pueden determinar pubertad precoz y en mujeres en edad fértil ocasionar hirsutismo, amenorrea o ciclos oligomenorreicos y diversos grados de virilización2. Los carcinomas adrenocorticales son tumores raros y la incidencia es aproximadamente uno a dos por millón de habitantes/año3,4. Los exámenes de imagen como la tomografía o la resonancia confirman el origen suprarrenal, valoran la presencia de metástasis y definen la conducta terapéutica5. La presentación inicial en pacientes pediátricos mayoritariamente es con virilización6 y aproximadamente el 50% de los pacientes adultos con carcinoma adrenal tienen un estadio de la enfermedad relativamente avanzado7. El tratamiento de elección es la cirugía y sigue siendo la mejor esperanza para la supervivencia a largo plazo8. El pronóstico habitual para el carcinoma adrenocortical es generalmente malo con una supervivencia global a 5 años de 20 a 25%5 en adultos, pero en niños y adolescentes la supervivencia puede llegar al 100%9. Se presenta el caso de una paciente con fenotipo totalmente masculino con diagnóstico de carcinoma adrenal virilizante que comienza en la infancia y se diagnostica en la adolescencia.

Virilizing adrenal tumors are uncommon and represent 5-6% on tumors of these glands1. They can secrete different androgens such as dehydroepiandrosterone sulfate (DHEAS), androstenedione, and testosterone. Clinical features depend on the age of presentation; in children they can determine precocious puberty and in women of childbearing age cause hirsutism, amenorrhea or oligomenorrheic cycles and various degrees of virilization2. Diagnosis consists of clinical evidence of hyperandrogenism, accompanied by an increase in androgens in the blood, especially DHEAS, whose origin is mainly adrenal. Adrenocortical carcinomas are rare and the incidence is approximately one to two per million inhabitants/year3,4. Imaging tests such as tomography or resonance confirm the adrenal origin, assess the presence of metastases and define the therapeutic approach5. In initial presentation in most pediatric patients is with virilization6 and approximately 50% adult's patients with adrenal carcinoma have a relatively advanced stage of the disease7. The treatment of choice is surgery and is the best hope for long-term survival. The usual prognosis for adrenocortical carcinoma is generally poor with a 5-year overall survival of 20 to 25%5 in adults, but in children and adolescent's survival can reach 100%9. We present the case of a patient with a totally male phenotype diagnosed with virilizing adrenal carcinoma that begins in childhood and is diagnosed in adolescence.

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