ABSTRACT
Androgen insensitivity syndrome (AIS), also known as testicular feminization, an X-linked recessive disorder comprises a wide range of phenotypes that are caused by various types of mutations in the androgen receptor gene. AIs can be classified as complete, partial, or mild based on the phenotypic presentation. The clinical findings include a female type of external genitalia, 46-XY karyotype, absence of Mullerian structures, presence of Wolffian structures to various degree, and normal to high testosterone and gonadotropin levels. We report this case as an interesting and rare syndrome. The patient is a 15-year-old phenotypic female who presented with primary amenorrhea and normal-appearing external genitalia. Orchidectomy was done after proper counselling and proper psychological support was given to her.
ABSTRACT
Androgen insensitivity syndrome (AIS), is a X-linked disorder characterized by resistance to androgen caused bymutation of androgen receptor gene in which XY karyotype individuals exhibit female phenotype.AIS is characterised by evidence of feminization (under masculinization) of the external genitalia at birth,abnormal secondary sexual development at puberty, and infertility in individuals with 46 XY karyotype.We are presenting here a familial case of complete androgen insensitivity syndrome in south Indian Population.46 XY karyotype was found in two subjects who were cousin sisters with female phenotype,who presented withprimary amenorrhoea. Comet assay was done, which showed results comparable with normal males. In bothgirls’ inguinal gonads was present which was removed and hormonal therapy with estrogen was given to preventosteoporosis. Androgen insensitivity syndrome can be inherited as an X linked disorder as evidenced by previousstudies.
ABSTRACT
Androgen insensitivity syndrome (AIS) is a disorder of sexual development characterized by a female phenotype with a 46 XY karyotype. Most patients present with primary amenorrhea; however,1.1% of patients present with an inguinal mass. Most commonly, seminoma arising from the gonads are found. This report represents the case of a 15 year-old female looking adolescent who initially presented with an abdominopelvic mass. A diagnosis of AIS was made based on the physical examination findings, endocrine profiling, imaging studies and karyotyping. She underwent cytoscopy, exploratory laparotomy,adhesiolysis, tumor debulking, frozen section, bowel run, repair of serosal tear, Jackson-Pratt drain insertion, bilateral percutaneous nephrostomy under combined spinal and epidural anesthesia. Histopathologic examination of the excised mass revealed a mixed germ cell tumor. This paper will discuss the diagnostic approach as well as the management and prognosis of patients with AIS associated with mixed germ cell tumor.
Subject(s)
Humans , Female , Adolescent , Adolescent , Androgen-Insensitivity Syndrome , Gonadoblastoma , Feminization , Germ Cells , Feminization , Testosterone , Genitalia , Phenotype , KaryotypeABSTRACT
Androgen insensitivity syndrome (AIS), formerly known as testicular feminization, is an X-linked recessive condition resulting in a failure of normal masculinisation of the external genitalia in chromosomally male individuals. It affects 2 to 5 per 100,000 people who are genetically male. A case of Androgen insensitivity syndrome is reported in a 20 year-old married woman, who presented with a history of primary amenorrhea. Her karyotype report revealed a male karyotype (46XY). Transvaginal sonography revealed absence of cervix, uterus and ovaries. Ultrasound of abdomen pelvis reported – bilateral inguinal testes. Bilateral inguinal gonadectomy was done. Histopathology of the gonads revealed seminiferous tubules lined by germ cells exhibiting various stages of normal spermatogenesis. She was treated with hormonal replacement therapy.
ABSTRACT
Lymphocytic hypophysitis is a rare inflammatory disease of the pituitary gland that is one of the cause of hypopituitarism. The majority of cases occur in women during the peripartum period, and it is rare in men. Testicular feminization syndrome is a genetic disorder presenting a 46XY karyotype, but a normal female phenotype. We report a case of lymphocytic hypophysitis in a 23-year-old woman with testicular feminization syndrome.
Subject(s)
Female , Humans , Male , Young Adult , Androgen-Insensitivity Syndrome , Hypopituitarism , Karyotype , Peripartum Period , Phenotype , Pituitary GlandABSTRACT
Testicular feminization syndrome (TFS) is a genetic disorder due to androgen insensitivity of the target organs. The most common clinical presentation of complete TFS is inguinal hernia in the infant or primary amenorrhea in the adolescence. A 7-year old phenotypically female patient was seen with a complaint of a right inguinal mass. Under the diagnosis of right inguinal hernia, high ligation was performed. Six months later, the patient showed a left inguinal mass. On operation, the mass looked like a testis. The external genitalia were normal female, but a uterus and ovary were not identified. Chromosome study showed a 46, XY karyotype and the levels of serum testosterone and dihydrotestosterone were increased after HCG stimulation. The patient was diagnosed as complete TFS and underwent bilateral gonadectomy 6 months later.
Subject(s)
Adolescent , Child , Female , Humans , Infant , Male , Amenorrhea , Androgen-Insensitivity Syndrome , Diagnosis , Dihydrotestosterone , Genitalia , Hernia, Inguinal , Karyotype , Ligation , Ovary , Testis , Testosterone , UterusABSTRACT
Testicular feminization syndrome (TFS) is a genetic disorder due to androgen insensitivity of the target organs. The most common clinical presentation of complete TFS is inguinal hernia in the infant or primary amenorrhea in the adolescence. A 7-year old phenotypically female patient was seen with a complaint of a right inguinal mass. Under the diagnosis of right inguinal hernia, high ligation was performed. Six months later, the patient showed a left inguinal mass. On operation, the mass looked like a testis. The external genitalia were normal female, but a uterus and ovary were not identified. Chromosome study showed a 46, XY karyotype and the levels of serum testosterone and dihydrotestosterone were increased after HCG stimulation. The patient was diagnosed as complete TFS and underwent bilateral gonadectomy 6 months later.
Subject(s)
Adolescent , Child , Female , Humans , Infant , Male , Amenorrhea , Androgen-Insensitivity Syndrome , Diagnosis , Dihydrotestosterone , Genitalia , Hernia, Inguinal , Karyotype , Ligation , Ovary , Testis , Testosterone , UterusABSTRACT
Complete testicular feminization syndrome (androgen insensitivity syndrome) is the most common form of male pseudohermaphroditism, transmitted by means of maternal X-linked recessive gene. This syndrome is marked by unique combination; Normal female phenotype, normal male karyotype, 46,XY, normal or slightly elevated male blood testosterone levels and a high LH. Clinically, the diagnosis should be considered in a female with inguinal hernias, a patient with primary amenorrhea and absent uterus. we present a case testicular feminization syndrome with blindly ended vagina and inguinal masses with a brief review of literatures.
Subject(s)
Female , Humans , Male , Disorder of Sex Development, 46,XY , Amenorrhea , Androgen-Insensitivity Syndrome , Diagnosis , Genes, Recessive , Hernia, Inguinal , Karyotype , Phenotype , Testosterone , Uterus , VaginaABSTRACT
The Complete testicular feminization syndrome is a hereditary syndrome characterized clinically by female phenotype with 46, XY karyotype and bilateral testes. There is a congenital insensitivity to androgens, transmitted by means of a maternal X-linked recessive gene responsible for the androgen intracellular receptor. Therefore, androgen induction of Wolffian duct development does not occur. However, anti-mullerian hormone activity is present and the individual does not have mullerian development. Principle of treatment is reinforced to live normal female life. This is a case report of testicular feminization syndrome with rudimentary salpinx with the brief review of literatures.
Subject(s)
Female , Humans , Male , Androgen-Insensitivity Syndrome , Androgens , Anti-Mullerian Hormone , Fallopian Tubes , Genes, Recessive , Karyotype , Phenotype , Testis , Wolffian DuctsABSTRACT
The testicular feminization is the most common type of male pseudohermaphroditism. Mutation of androgen receptor gene impairs normal sexual differentiation in genetic male (46, XY) and subsequently develops secondary female characteristics. We report three cases of complete testicular feminization syndrome with normal development of female external genitalia, but with blindly ended vagina and inguinal or pelvic masses. Microscopic examination of the testes and their adnexa had three components: 1) A testis composed of immature tubules, prominent Leydig cells and a spindle cell stroma resembling ovarian stroma with hamartomatous nodule or Sertoli cell adenoma, 2) a white, whorled, firm, smooth muscle body in the medial pole of the testis, and 3) a lateral adnexal cysts of varying sizes.
Subject(s)
Female , Humans , Male , Disorder of Sex Development, 46,XY , Adenoma , Androgen-Insensitivity Syndrome , Cryptorchidism , Disorders of Sex Development , Genitalia , Leydig Cells , Muscle, Smooth , Receptors, Androgen , Sex Differentiation , Testis , VaginaABSTRACT
Testicular feminization is an uncommon genetic disorder with considerably familial predisposition and results in total feminization due to end-organ unresponsiveness to androgens. It is characterized by the presence of testes in phenotypically female with adequate breast development, normal extemal genitalia, absence of mullerian structures, and meager or absence of body hair. These patients characteristically have male karyotype(XY) and negative sex chromatin and are at increased risk of undergoing malignant transformation of the undescended gonad. In recent times, the malignant potential of the dysgenetic gonads in the intersex patients with a Y chromosome has been stressed by many authors, but few reports of an association between testicular feminization syndrome and benign tumors such as Sertoli cell adenomas. In the present study, postoperative pathology revealed that the gonads were Sertoli cell adenomas. The main features of clinical presentation and histological studies are briefly discussed with a review of the literature.
Subject(s)
Female , Humans , Male , Adenoma , Androgen-Insensitivity Syndrome , Androgens , Breast , Feminization , Genitalia , Gonads , Hair , Pathology , Sex Chromatin , Testis , Y ChromosomeABSTRACT
Testicular feminization syndrome is characterized by 46,XY karyotype, bilateral testes, absent or hypoplastic wolffian duct, female appearing external genitalia, blind vaginal pouch, and absent or rudimentary muillerian derivatives. We experienced vaginoplasty using rictus abdominis myocutaneous flap with modified Burch bladder neck suspension in a 51-year-old patient with testicular feminization syndrome combined with stress urinary incontinence.
Subject(s)
Female , Humans , Male , Middle Aged , Androgen-Insensitivity Syndrome , Genitalia , Karyotype , Myocutaneous Flap , Neck , Testis , Urinary Bladder , Urinary Incontinence , Wolffian DuctsABSTRACT
Cytogenetic analysis of 70 primary amenorrhea cases revealed normal chromosomal constitution (46, XX-71.43%) in 50 and abnormal karyotype in 20 (28.57%) cases examined. Among the abnormal cases, there were 4 with 45, X (5.71%), 11 (15.71) with 45, X / 46, XX; 1 each with mosaicism of 45, X / 47, XXX and 45, XX/47, XXX and 47, XXX (1.43%) constitution. The remaining 2 cases with 46, XY constitution had testicular feminization syndrome.