A pig was confirmed to be a true hermaphrodite on the basis of gross and histomorphological studies of the genital organs. The genitalia was consisted of left ovary, oviduct, two coiled uterine horns, body of uterus alongwith right testis and an epididymis. Vagina and vulva were absent but male urethra with prostate gland was present. Grossly the size of all the genital organs appeared to be normal. Histomorphologically, testis and epididymis were underdeveloped as there was no clearcut spermatogenia and sertoli cells but Leydig cells were normal. The ovary presents normal histological features with some portion of testicular tissue. Degeneration of uterine epithelium was observed along with normal endometrial glands.
Animals ; Female ; Genitalia, Female/abnormalities ; Genitalia, Male/abnormalities ; Hermaphroditism/pathology/*veterinary ; Male ; Swine ; Swine Diseases/*pathology

Cryptorchidism is a clinically common congenital deformity of the genital organ, the etiological factors of which are still not clarified up to now. Undescended testis is frequently accompanied with the anomalies of the spermatic cord, gubernaculum testis, processus vaginalis, and epididymis. Because these anatomical anomalies act as terminal factors or the ending in the links of the cause of cryptorchidism, it is of important directive significance for the clinical treatment of the problem to seek evidence of anatomical anomalies at orchiopexy to demonstrate the etiological factors of cryptorchidism.
Cryptorchidism ; etiology ; Epididymis ; abnormalities ; Genitalia, Male ; abnormalities ; Humans ; Male ; Spermatic Cord ; abnormalities ; Testis ; abnormalities

One of the challenges in andrology nowadays is the diagnosis and treatment of external genital abnormalities and defects along with the consequent voiding, sexual, and reproductive dysfunctions, for which no guidelines are yet available. Hitherto, surgical repair and reconstruction are efficient for these diseases. The key to these operations is to individualize surgical strategies according to the specific local lesion and dysfunction, usually involving flap and graft techniques. This article presents our experience in the surgical treatment of penile and scrotal abnormalities and defects with urological and andrological techniques and microsurgical strategies, focusing on the external repair and functional reconstruction. Satisfactory treatment outcomes pivot on a precise evaluation of the disease, a rational design of surgical procedures, and an earnest communication with the patient. Some cases are rather complicated and challenging, usually with complications, and therefore deserve further researches for more effective treatment strategies in clinical practice.
Andrology ; Genitalia, Male ; abnormalities ; surgery ; Humans ; Male ; Penis ; abnormalities ; surgery ; Reconstructive Surgical Procedures ; methods ; Scrotum ; abnormalities ; surgery ; Surgical Flaps ; Treatment Outcome

BACKGROUNDFemale genital malformations represent miscellaneous deviations from normal anatomy. This study aimed to explore the clinical characteristics of patients who underwent surgery for genital tract malformations at Peking Union Medical College Hospital (PUMCH) during a 31-year period.

METHODSWe retrospectively reviewed surgical cases of congenital malformation of the female genital tract at PUMCH for a 31-year period, analyzed the clinical characteristics of 1634 hospitalized patients, and investigated their general condition, diagnosis, and treatment process.

RESULTSThe average patient age was 27.6 ± 9.9 years. The average ages of patients who underwent surgery for uterine malformation and vaginal malformation were 31.9 ± 8.8 years and 24.7 ± 9.0 years, respectively; these ages differed significantly (P < 0.01). Among patients with genital tract malformation, the percentages of vaginal malformation, uterine malformation, vulva malformation, cervical malformation, and other malformations were 43.9%, 43.5%, 7.4%, 2.3%, and 2.8%, respectively. Among patients with uterine malformation, 34.5% underwent surgery for the genital tract malformation, whereas in patients with vaginal malformation, the proportion is 70.6%; the difference between the two groups was statistically significant (P < 0.01). The percentage of complications of the urinary system in patients with vaginal malformations was 10.2%, which was statistically significantly higher than that (5.3%) in patients with uterine malformations (P < 0.01).

CONCLUSIONSCompared to patients with uterine malformations, patients with vaginal malformations displayed more severe clinical symptoms, a younger surgical age, and a greater need for attention, early diagnosis, and treatment. Patients with genital tract malformations, particularly vaginal malformations, tend to have more complications of the urinary system and other malformations than patients with uterine malformations.

Abnormalities, Multiple ; surgery ; Adolescent ; Adult ; China ; Female ; Genitalia, Female ; surgery ; Hospitals ; Humans ; Male ; Retrospective Studies ; Urogenital Abnormalities ; surgery ; Uterus ; abnormalities ; surgery ; Vagina ; surgery ; Young Adult

OBJECTIVE: To detect pathogenic variant of the FGD1 gene in a boy with Aarskog-Scott syndrome. METHODS: Genetic variant was detected by high-throughput sequencing. Suspected variant was verified by Sanger sequencing. The nature and impact of the candidate variant were predicted by bioinformatic analysis. RESULTS: The child was found to harbor a novel c.1906C>T hemizygous variant of the FGD1 gene, which has led to conversion of Arginine to Tryptophane at codon 636(p.Arg636Trp). The same variant was found in his mother but not father. Based on the American College of Medical Genetics and Genomics guidelines, the c.1906C>T variant of FGD1 gene was predicted to be likely pathogenic(PM1+PM2+PM5+PP2+PP3+PP4). CONCLUSION The novel c.1906C>T variant of the FGD1 gene may underlay the Aarskog-Scott syndrome in this child. Above finding has enabled diagnosis for the boy.
Child ; Dwarfism ; Face/abnormalities* ; Genetic Diseases, X-Linked ; Genitalia, Male/abnormalities* ; Guanine Nucleotide Exchange Factors/genetics* ; Hand Deformities, Congenital/genetics* ; Heart Defects, Congenital ; Humans ; Male ; Mutation

AIMTo identify the genotype of two Indians with male pseudohermaphroditism.

METHODSStandard radioimmunoassay procedure was used for estimating hormonal levels. Conventional cytogenetic analysis was carried out for diagnosing the genetic sex in these subjects with genital ambiguity. Molecular analysis was carried out by standard polymerase chain reaction procedure using different sets of primers and reaction conditions specific for the 5alpha-reductase type 2 gene (SRD5A2) gene. Direct sequencing was carried out using the ABI Prism dye terminator sequencing kit and the ABI 310 sequencing apparatus.

RESULTSWe found an SRD5A2 gene mutation in exon 5, where arginine is substituted with glutamine (R246Q), in two males with pseudohermaphroditism and ambiguous genitalia from unrelated families. This is the first time this mutation has been reported in individuals from India.

CONCLUSIONIdentification of the R246Q mutation of the SRD5A2 gene from two unrelated Indian families possibly extends the founder gene effect.

3-Oxo-5-alpha-Steroid 4-Dehydrogenase ; genetics ; Child ; Dihydrotestosterone ; blood ; Disorders of Sex Development ; genetics ; pathology ; Family Health ; Follicle Stimulating Hormone ; blood ; Founder Effect ; Genitalia, Male ; abnormalities ; Humans ; Hypospadias ; genetics ; pathology ; India ; Luteinizing Hormone ; blood ; Male ; Mutation, Missense ; Testosterone ; blood

PURPOSE: Congenital absence of the vagina is a rare case. It occurs as a result of Mullerian duct aplasia or complete androgen insensitivity syndrome. The reconstructive modality includes skin graft, use of intestine and various methods of flap. We report a patient who underwent vulvoperineal fasciocutaneous flap to reconstruct congenital absence of the vagina, while the external genitalia and ovaries are normal. METHODS: A 26-year-old woman presented with vaginal agenesis. Under general anesthesia, a U-shaped incision was made between the urethral meatus and the anus. The new vaginal pocket was created up to the level of the peritoneal reflection between the urinary structures and the rectum. Next, the vulvoperineal fasciocutaneous flaps were designed in a rectangular fashion. Flap elevation was begun at the lateral margin which the adductor longus fascia was incised and elevated, and the superficial perineal neurovascular pedicle was invested by the fascial layer. The medial border was then elevated. A subcutaneous tunnel was created beneath the inferior of the labia to rotate the flaps. The left vulvoperineal flap was rotated counterclockwise and the right was rotated clockwise. The neovaginal pouch was formed by approximating the medial and lateral borders. The tubed neovagina was then transposed into the cavity. RESULTS: In 3 weeks, the vaginal canal remained supple After 6 weeks, the physical examination showed normal-appearing labia majora and perineum with an adequate vaginal depth. A year after the operation, the patient had a 7 cm vagina of sufficient width with no evidence of contractures nor fibrous scar formation. The patient was sexually active without difficulty. CONCLUSION: Although many methods were described for reconstruction of vaginal absence, there is not a method yet to be approved as a perfect solution. We used the vulvoperineal fasciocutaneous flap to reconstruct a neovagina. This method had a following merits: a single-stage procedure, excellent flap reliability, the potential for normal function, minimal donor site morbidity and no need for subsequent dilatation, stents, or obturators. We thought that this operation has a good anatomic and functional results for reconstruction of the vagina.
Adult ; Anal Canal ; Androgen-Insensitivity Syndrome ; Anesthesia, General ; Cicatrix ; Congenital Abnormalities ; Contracture ; Dilatation ; Fascia ; Female ; Genitalia ; Humans ; Intestines ; Male ; Ovary ; Perineum ; Physical Examination ; Polyenes ; Rectum ; Skin ; Stents ; Tissue Donors ; Transplants ; Vagina

In this study, we investigated the genetics, clinical features, and therapeutic approach of 14 patients with 5α-reductase deficiency in China. Genotyping analysis was performed by direct sequencing of PCR products of the steroid 5α-reductase type 2 gene (SRD5A2). The 5α-reductase activities of three novel mutations were investigated by mutagenesis and an in vitro transfection assay. Most patients presented with a microphallus, variable degrees of hypospadias, and cryptorchidism. Eight of 14 patients (57.1%) were initially reared as females and changed their social gender from female to male after puberty. Nine mutations were identified in the 14 patients. p.G203S, p.Q6X, and p.R227Q were the most prevalent mutations. Three mutations (p.K35N, p.H162P, and p.Y136X) have not been reported previously. The nonsense mutation p.Y136X abolished enzymatic activity, whereas p.K35N and p.H162P retained partial enzymatic activity. Topical administration of dihydrotestosterone during infancy or early childhood combined with hypospadia repair surgery had good therapeutic results. In conclusion, we expand the mutation profile of SRD5A2 in the Chinese population. A rational clinical approach to this disorder requires early and accurate diagnosis, especially genetic diagnosis.
3-Oxo-5-alpha-Steroid 4-Dehydrogenase/genetics* ; Adolescent ; Adult ; Asian People/genetics* ; Child ; Child, Preschool ; China ; Disorder of Sex Development, 46,XY/genetics* ; Follicle Stimulating Hormone/blood* ; Genitalia, Male/abnormalities* ; Humans ; Hypospadias/genetics* ; Luteinizing Hormone/blood* ; Male ; Membrane Proteins/genetics* ; Mutation/genetics* ; Sequence Alignment ; Steroid Metabolism, Inborn Errors/genetics* ; Testosterone/blood* ; Young Adult