Two American Cocker Spaniels and one Bichon Frise were presented to our veterinary teaching hospital with an enlarged clitoris. Diagnostic imaging showed that the structure was composed of bony material. Exploratory laparotomy revealed uterine-like structures and testes which had an epididymis unilaterally. Surgical removal of internal genitalia, gonads and protruded clitoris were performed well. Histological evaluation revealed; inactive testes, female internal genital tracts with ambisexual ductal remnants, and prominent ossification in the clitoris. All 3 cases were diagnosed with male pseudohermaphroditism. In author's knowledge, this is the first report in Bichon Frise dog with os clitoris and also, it describes not common cases in small dog breeds with os clitoris.
46, XY Disorders of Sex Development ; Animals ; Clitoris ; Diagnostic Imaging ; Dogs ; Epididymis ; Female ; Genitalia ; Gonads ; Hospitals, Teaching ; Humans ; Laparotomy ; Male ; Testis

FSH is the pivotal hormone in the regulation of ovarian function and acts by binding to specific receptor, FSH receptor (FSHR), which is belong to the family of G-protein coupled receptor. It have been considered that ovary is the only target organ of FSH because FSHR mRNA was first detected in ovarian follicles. However expression of FSHR mRNA was also detected on fallopian tube in experimental animal study and it is related wih tumorigenesis in postmenopausal women.In this study, in order to understand the FSH function in female genital organs, the ontogeny of the production profile of FSHR and the pattern of its localization in female genital organs were studied. We obtained the fresh tissues of ovary, fallopian tube, uterine body and uterine cervix with blood samples during proliferative phase in women with regular menstrual cycle. To establish FSHR mRNA expression of human internal genital organ, we studied by using in situ hybridization and quantitative competitive reverse transcription polymerase chain reaction (QC RT-PCR). To localize FSHR transcripts by in situ hybridization, we synthesized digoxigenin-labelled ssRNA probe (about 800 bp) from the cloned FSHR cDNA. For QC RT-PCR, we designed oligonucleotide primers (antisense: 5'-GGCCCTGCTCCTGGTCTCTTTG-3', sense: 3'-AACAGCGGGAGTACCTTCGG-5') which produced 799 bp sized PCR products. Simultaneously we synthesized 149 bp deleted DNA competitor by site-directed mutagenesis to quantify target FSHR mRNA expression comparing as internal control.In situ hybridization with digoxigenin-labelled ssRNA probe showed no signal above the background in primordial follicles. FSHR mRNA was first detected in the single layer of cuboidal granulosa cells surrounding primary follicles. As follicular growth progressed, FSHR mRNA expression increased gradually in antral and graafian follicles. Similary, in fallopian tube, the epithelium stained intensly. But FSHR mRNA expression was absent in uterine body including endometrium and myometrium and uterine cervix. Total RNA was extracted and quantitated by QC RT-PCR. The amounts of FSHR transcript measured were 840.00+/-516.29 in the ovarian tissue, 240.00+/-154.91 in the fallopian tube, 6.06+/-4.13 in the uterine body, 5.48+/-5.00 fg in the uterine cervix. These experiments demonstrated that FSHR mRNA is expressed in the ovary and fallopian tube, albeit only small amount was expressed in uterine body and cervix.In conclusion, the presence of FSHR mRNA in female internal genital organ with site specific pattern suggested that FSH may have some role in female genital organs during the adult reproductive cycle and may act as an factor in the tumorigenesis. Further study about the functional role and tumorigenesis of FSH should be performed in human internal genital organ.
Adult ; Animals ; Carcinogenesis ; Cervix Uteri ; Clone Cells ; DNA ; DNA Primers ; DNA, Complementary ; Endometrium ; Epithelium ; Fallopian Tubes ; Female ; Female* ; Genitalia ; Genitalia, Female* ; Granulosa Cells ; GTP-Binding Proteins ; Humans ; In Situ Hybridization ; Menstrual Cycle ; Mice ; Mutagenesis, Site-Directed ; Myometrium ; Ovarian Follicle ; Ovary ; Polymerase Chain Reaction ; Receptors, FSH ; Reverse Transcription ; RNA ; RNA, Messenger*

Complete androgen insensitivity syndrome (CAIS) is a rare disorder sometimes referred to as male pseudohermaphroditism. This syndrome is characterized by a 46,XY karyotype with internal bilateral testes, female external genitalia, absence or scantiness of pubic and axillary hair and normal breast development. A variety of gonadal tumors can develop in individuals with CAIS. A 57-year-old patient was admitted to urology with intermittent gross hematuria for one month. CT revealed a left ureteric mass, measuring 2.5 x 2 cm. Ureteroscopic biopsy was performed and the result was a diagnosis of high grade urothelial carcinoma. The patient underwent laparotomy which revealed slightly enlarged gonads in the pelvic cavity. However, a uterus and fallopian tubes were not identified. Left nephroureterectomy and bilateral gonadectomy were performed. The right gonad measured 3.9 x 2.5 x 2 cm and the cut surface showed a well circumscribed, firm, brownish gray colored 2 x 1.8 cm sized nodule. Microscopically, this nodule consisted of uniform and solid tubules containing immature Sertoli cells and Leydig cells which were both positive for alpha-inhibin. The left gonad measured 3.5 x 2 x 1.9 cm and showed atrophic testicular tissue.
46, XY Disorders of Sex Development ; Androgen-Insensitivity Syndrome* ; Biopsy ; Breast ; Carcinoma, Transitional Cell ; Diagnosis ; Fallopian Tubes ; Female ; Genitalia ; Gonads ; Hair ; Hematuria ; Humans ; Karyotype ; Laparotomy ; Leydig Cells ; Male ; Middle Aged ; Sertoli Cells ; Sertoli-Leydig Cell Tumor* ; Testis ; Ureter ; Urology ; Uterus

True hermaphroditism is a condition in which both an ovary and a testis or a gonad with histological features of both (ovotestis) is present in same individual. We present a case of 16-year-old true hermaphroditism who had an ovotestis on both gonad and female internal organs, such as fimbria. fallopian tube, uterus in the left scrotum after bilateral scrotal exploration. The patient's sex was reassigned to the male according to sex of rearing and gender role and managed with removal of ovotestis and female internal organs, bilateral subcutaneous mastectomy.
Adolescent ; Fallopian Tubes ; Female* ; Gender Identity ; Genitalia* ; Gonads ; Humans ; Male ; Mastectomy, Subcutaneous ; Ovary ; Ovotesticular Disorders of Sex Development* ; Scrotum* ; Testis ; Uterus

Androgen insensitivity syndrome is a genetic syndrome characterized by complete or partial resistance of end organ to the peripheral effect of androgen. Patient have a male karyotype(46,XY) and bilateral testes. Appearance of external genitalia depend on the degree of androgen insensitivity. In the complete form, external genitalia is normal female but in the incomplete form, external genitalia figure varies hom that of a virilized female to that of an undervirilized male with a short penis and hypospadia. The gonads are able to be located along the descending course of the testis during development. The usual presenting symptom in complete type is primary amenorrhea or inguinal mass, but in incomplete type, the patient mainly present with ambiguous genitalia. Recently we experienced one case of this syndmme and removed the bilateral gonads, so we report it with brief review of literatures.
Amenorrhea ; Androgen-Insensitivity Syndrome* ; Disorders of Sex Development ; Female ; Genitalia ; Gonads* ; Humans ; Hypospadias ; Male ; Penis ; Testis

A 5 year-old girl was admitted to the hospital on April 18, 1967 to be investigated for genital anomalies such as greatly enlarged clitoris, sexual hair in axillae and on pubic region, acne on the face, and excessive somatic growth which were first noticed by her parents at the age of two(Figures 1 and 2). She measured 118 cm in height (normal, 96 cm), and 20kg in weight (normal, 11kg) and was very muscular (Fig. 2 and table 1). The enlarged clitoris measured 3 cm long and showed a groove on its ventral surface communicating with a small opening from the urogenital sinus. The urogenital sinus was persitted and the labia minora are small, but the labia majora are large and resemble an open scrotum. the two labio-scrotal folds were separated and contained no exteriorized gonads. Pubic and axillary hair were scanty but acne on the face was moderately developed (Fig. 3). Nuclear sexing was female type. Her blood pressure and strum electrolytes were normal. Her bone age was around 9 years of a girl. Cystogram and vaginogram were found to be normal (Figure 4,5 and 6). Three consecutive urinary 17-ketosteroid outputs per day were 9.0, 14.0 and 11.4 mg prior to treatment. On cortisone suppression test, the amount of it dropped from 14.0 to 3.7 mg, but it was not significantly suppressed on the third to seventh days of the test to a value below two-third of the pretest level (Fig. 7). Constructive operation of feminine external genitalia including vaginoplasty and clitoridectomy was performed following a vaginogram being taken under general anesthesia on April 28. 1967 (Fig. 8). Both adrenal glands were explored on May 16, 1967 by Young's bilateral approach under general anesthesia and they were found to be hyperplastic almost three times bigger than the normal size but no tumor man was seen. After having decided that both adrenals were in a condition of marked hyperplasia, outer halves of both adrenals were excised. The removed specimens measured 4.0X1.5X 0.5 cm in the right side and 3.5X2.0X0.4 cm in the left. Histological examination showed simple cortical hyperplasia of both adrenals, but the severity was more marked in left than in right (Fig. 9-A, B). Acne subsided and hirsutism decreased one month after the initiation of cortisone therapy in addition to the subtotal adrenal resection. Although it is too early to evaluate the ultimate value of long-term suppressive therapy, clinical results at this time are encouraging.
Acne Vulgaris ; Adrenal Glands ; Adrenogenital Syndrome* ; Anesthesia, General ; Axilla ; Blood Pressure ; Child, Preschool ; Circumcision, Female ; Clitoris ; Cortisone ; Electrolytes ; Female ; Genitalia ; Gonads ; Hair ; Hirsutism ; Humans ; Hyperplasia ; Male ; Parents ; Scrotum

We report an unusual case of clitoral hypertrophy due to neurofibromatosis of external genitalia. The patient also had definite skin lesions and family history. The patient was treated successfully by clitorectomy. The patient seems to be the first case of clitoral neurofibromatosis reported in Korean literature.
Circumcision, Female ; Clitoris ; Female ; Genitalia ; Humans ; Hypertrophy ; Male ; Neurofibromatoses* ; Skin

XX male has a male phenotype with testes or gonads of testicular type and a female chromosomal constitution of 46, XX with no evidence of either ovarian tissue or female genital organs. Generally, they have normal male genitalia and all are infertile. We experienced a neonate with anophthalmia, hypospadia, small penis, and normal testes, whose chromosomal analysis demonstrated 46, XX. Polymerase chain reaction revealed the existence of a sex-determining region of Y (SRY). These findings suggest that the translation of an SRY on the X chromosome led to the development of a male phenotype. We report the case with a review of the related literature.
46, XX Testicular Disorders of Sex Development* ; Anophthalmos ; Constitution and Bylaws ; Female ; Genitalia, Female ; Genitalia, Male ; Gonads ; Humans ; Hypospadias ; Infant, Newborn ; Male ; Penis ; Phenotype ; Polymerase Chain Reaction ; Testis ; X Chromosome

True hermaphroditism is one of the rare congenital anomalies. Additional four cases of this anomaly are added to the 2 cases which were reported previously from the Dept. of Urology, Busan National University Hospital. Clinical review was performed about these 6 cases. The results were as follows; 1. The incidence of true hermaphroditism is 0.17% in 3,456 uro1ogicaladnrissions from Jan. 1964 to Mar. 1982, 1.6% in 380 admissions with congenital anomalies of the external genitalia and 25% in 24 admissions with hypospadias and cryptorchism during this period. 2. Hypospadias and cryptorchisrn are found in 6 cases, bifid scrotum 3 cases, and labioscrotal folds in 2 cases. Roentgenograms of retrograde urethrography were available in 4 cases and revealed blind vaginal pouch in 3 cases. Among these 3 cases, one had patent fallopian tube at the cephalad end of the pouch. The other one had well developed vagina and the uterus with patent fallopian tube. 3. The genital ducts were developed ipsilaterally in 9 gonads composed of pure testicular or ovarian tissues but developed to those of male pattern in 3 gonads containing the ovarian and testicular tissues. Among these 3 cases two cases did not have the vas deferens. 4. Of 6 gonads containing the testicular tissues, two were in the scrotum, 2 in inguinal and remained 2 were in the peritoneal cavity. Of gonads containing the ovarian tissues, seven were in the peritoneal cavity and one in the retroperitoneum. 5. Sex chromatin was positive in 3 cases, negative in 3 cases. 6. Of 5 cases who had been reared as male, two were assigned to female, one to male and remained 2 were not decided the sex. The other who had been reared as female was assigned to female. 7. The type of true hermaphroditism is lateral in 3 cases (Type I)and unilateral in 3 cases (Type IIIb 2 cases, Type IIIa I case)by the classification of Jones and Scott.
Busan ; Classification ; Cryptorchidism ; Fallopian Tubes ; Female ; Genitalia ; Gonads ; Humans ; Hypospadias ; Incidence ; Male ; Ovotesticular Disorders of Sex Development* ; Peritoneal Cavity ; Scrotum ; Sex Chromatin ; Urology ; Uterus ; Vagina ; Vas Deferens

OBJECTIVE: To study the etiology of primary amenorrhea in 19-aged woman. MATERIALS ANDMETHODS: Case report. RESULTS: I found that there were not gonads and organ of mullerian ducts origin on diagnostic laparoscopy. She was normal 46XX on chromosomal study and normal external genitalia except short vaginal canal. CONCLUSION: It is very rare that absent gonads and lack of mullerian ducts with 46XX female and primary amenorrhea.
Amenorrhea* ; Female ; Genitalia ; Gonads* ; Humans ; Laparoscopy ; Mullerian Ducts*