Androgen insensitivity syndrome(AIS)with bilateral testicular malignant transformation is very rare,and its diagnosis should be based on clinical manifestations,physical examination,serological findings,karyotype analysis,and pathological findings.This study reported a case of complete androgen insensitivity syndrome among Tibetan in Tibet.It took 17 years from the discovery of congenital absence of uterus to bilateral pelvic mass resection.Pathological examination confirmed that bilateral pelvic space occupying lesions were dysplastic testicular tissue with seminoma and sertoli cell adenoma-like nodules.This study summarized the clinicopathological features to deepen the understanding of the disease.
Androgen-Insensitivity Syndrome/surgery* ; Cryptorchidism ; Female ; Humans ; Male ; Seminoma/pathology* ; Testicular Neoplasms/pathology* ; Tibet

Androgen insensitivity syndrome is an X-linked recessive condition resulting in a failure of normal masculinization of the external genitalia in a chromosomally male individual. We describe two phenotypically female siblings aged 27 and 18 years, who presented with primary amenorrhea. The older sibling first consulted because of her desire to be pregnant while her younger sibling consulted upon the physician’s advice. Clinical presentation, physical examination, hormonal and imaging studies and a male (46XY) karyotype confirmed the diagnosis of Complete Androgen Insensitivity Syndrome (AIS) in both individuals. Both of them underwent exploratory laparotomy with histopathology confirming presence of immature testicular tissue. Hormone replacement therapy was then started. Both were advised to undergo psychosocial counseling and both chose to be women. This case report is significant since there are only a few local case reports about siblings presenting with this condition.
Androgen-Insensitivity Syndrome ; Karyotyping

OBJECTIVE: To detect potential variant of AR gene in an infant with complete androgen insensitivity syndrome. METHODS: The coding regions and splicing sites of the AR gene were subjected to PCR amplification and direct DNA sequencing. Fluorescence quantitative PCR was also used to detect copy number alterations of exons 2 to 8 of the AR gene. RESULTS: Deletion of exons 2 to 8 was detected in the proband, and the results were verified among the family members. CONCLUSION Hemizygotic deletion of exons 2 to 8 of the AR gene probably underlies the complete androgen insensitivity syndrome in this infant.
Androgen-Insensitivity Syndrome ; genetics ; Base Sequence ; Exons ; Humans ; Infant ; Male ; Polymerase Chain Reaction ; Receptors, Androgen ; genetics

Androgen insensitivity syndrome (AIS) is a rare genetic disease caused by various abnormalities in the androgen receptor (AR). The AR is an essential steroid hormone receptor that plays a critical role in male sexual differentiation and development and preservation of the male phenotype. Mutations in the AR gene on the X chromosome cause malfunction of the AR so that a 46,XY karyotype male has some physical characteristics of a woman or a full female phenotype. Depending on the phenotype, AIS can be classified as complete, partial or mild. Here, we report 2 cases of complete AIS in young children who showed complete sex reversal from male to female as a result of AR mutations. They had palpable inguinal masses and normal female external genitalia, a blind-end vagina and absent Müllerian duct derivatives. They were both 46,XY karyotype and AR gene analysis demonstrated pathologic mutations in both. Because AIS is inherited in an X-linked recessive manner, we performed genetic analysis of the female family members of each patient and found the same mutation in the mothers of both patients and in the female sibling of case 2. Gonadectomy was performed in both patients to avoid the risk of malignancy in the undescended testicles, and estrogen replacement therapy is planned for their adolescence. Individuals with complete AIS are usually raised as females and need appropriate care.
Adolescent ; Androgen-Insensitivity Syndrome* ; Child ; Disorders of Sex Development ; Estrogen Replacement Therapy ; Female* ; Genitalia ; Humans ; Karyotype ; Male ; Mothers ; Phenotype ; Receptors, Androgen ; Sex Differentiation ; Siblings ; Testis ; Vagina ; X Chromosome

Adolescent ; Androgen-Insensitivity Syndrome/genetics* ; Cytosine ; Female ; Guanine ; Humans ; Male ; Mutation ; RNA Splice Sites/genetics* ; Receptors, Androgen/genetics*

Androgen insensitivity syndrome (AIS), an X-linked recessive genetic disorder of sex development, is caused by mutations in the androgen receptor (AR) gene, and is characterized by partial or complete inability of specific tissues to respond to androgens in individuals with the 46,XY karyotype. This study aimed to investigate AR gene mutations and to characterize genotype-phenotype correlations. Ten patients from unrelated families, aged 2-31 years, were recruited in the study. Based on karyotype, altered hormone profile, and clinical manifestations, nine patients were preliminarily diagnosed with complete AIS and one with partial AIS. Genetic analysis of AR gene revealed the existence of 10 different mutations, of which five were novel (c.2112 C>G[p.S704R], c.2290T>A[p.Y764N], c.2626C>T[p.Q876X], c.933dupC[p.K313Qfs*28], and c.1067delC[p.A356Efs*123]); the other five were previously reported (c.1789G>A[p.A597T], c.2566C>T[p.R856C], c.2668G>A[p.V890M], c.2679C>T[p.P893L], and c.1605C>G[p.Y535X]). Regarding the distribution of these mutations, 60.0% were clustered in the ligand-binding domain of AR gene. Exons 1 and 8 of AR gene each accounted for 30.0% (3/10) of all mutations. Most of the truncation mutations were in exon 1 and missense mutations were mainly located in exons 4-8. Our study expands the spectrum of AR gene mutations and confirms the usefulness of AR gene sequencing to support a diagnosis of AIS and to enable prenatal or antenatal screening.
Adolescent ; Adult ; Androgen-Insensitivity Syndrome/genetics* ; Child ; Child, Preschool ; DNA Mutational Analysis ; Genetic Association Studies ; Humans ; Male ; Mutation, Missense ; Phenotype ; Receptors, Androgen/genetics* ; Symptom Assessment ; Young Adult

Androgen Insensitivity Syndrome (AIS) is a disorder wherein a patient presents with a female phenotype but is actually genetically male with an XY karyotype. Typically, AIS is diagnosed at the beginning of second decade, when a phenotypically female patient complains of amenorrhea. It is extremely rare to make a first diagnosis of AIS after the fifth decade of life. This case report presents a 62-year old female who consulted because of primary amenorrhea and intraabdominal mass. Patient was diagnosed with Complete Androgen Insensitivity Syndrome based on physical exam findings, imaging studies, endocrine tests and karyotyping. She underwent exploratory laparotomy, adhesiolysis and bilateral orchiectomy. This report will discuss diagnosis and appropriate management of patients with Complete Androgen Insensitivity.
Androgen-Insensitivity Syndrome

Disorders of sex development (DSD) are congenital conditions characterized by atypical development of chromosomal, gonadal, and phenotypic sex. 46, XY DSD can result from disorders of testicular development or disorders of androgen synthesis/action. Prophylactic gonadectomy should be considered in patients with 46, XY DSD because of the increased risk of gonadal malignancy. We report two rare cases of 46, XY DSD, including XY pure gonadal dysgenesis and complete androgen insensitivity syndrome, who underwent a prophylactic gonadectomy.
46, XY Disorders of Sex Development ; Androgen-Insensitivity Syndrome ; Disorders of Sex Development ; Female* ; Gonadal Dysgenesis ; Gonadal Dysgenesis, 46,XY ; Gonads ; Humans ; Karyotype* ; Male

OBJECTIVETo identify potential mutation of androgen receptor (AR) gene in a patient with complete androgen insensitivity syndrome (CAIS) and his family members.

METHODSTotal RNA and genomic DNA were extracted from the peripheral blood samples derived from the proband and her family members. Sequences of 7 exons of the AR gene were amplified with reverse transcriptase PCR(RT-PCR) and subjected to direct sequencing. Suspected mutation was also analyzed with PCR-restriction fragment length polymorphism (PCR-RFLP) and direct sequencing.

RESULTSDNA sequencing has revealed a nucleotide change (2880A>G) in the pedigree, which resulted in a missense mutation (R840H).

CONCLUSIONA prenatal diagnostic method was established for detecting mutation of the AR gene in the pedigree. Long chain RT-PCR was first used for the detection of AR gene mutations.

Androgen-Insensitivity Syndrome ; genetics ; Base Sequence ; Child ; DNA Mutational Analysis ; methods ; Family Health ; Female ; Humans ; Male ; Mutation, Missense ; Pedigree ; Receptors, Androgen ; genetics ; Reverse Transcriptase Polymerase Chain Reaction ; methods

17α-hydroxylase deficiency is a rare cause of congenital adrenal hyperplasia and is characterized by primary amenorrhea, delayed puberty and hypertension. Although 17α-hydroxylase deficiency mimics mineralocorticoid-induced hypertension, impaired sexual development can aid in the differential diagnosis of this disease. A 32-year-old woman, who had a history of testicular feminization syndrome, presented with hypertension. Her aldosterone level was elevated whereas plasma renin activity was reduced, and her computed tomography scan showed a left adrenal adenoma, which was thought to be an aldosterone producing adenoma. A left adrenalectomy was performed to treat hypertension; however, the condition did not improve. The hormonal tests revealed high levels of plasma progesterone, mineralocorticoid and adrenocorticotropic hormone, and low levels of 17a hydroxyprogesterone, cortisol and sex hormones. The patient was diagnosed with 17α-hydroxylase deficiency and commenced on prednisolone, which controlled hypertension. Here, we report a case of 17α-hydroxylase deficiency mimicking hyperaldosteronism via aldosterone-producing adrenal adenoma.
Adenoma* ; Adrenal Hyperplasia, Congenital ; Adrenalectomy ; Adrenocortical Adenoma ; Adrenocorticotropic Hormone ; Adult ; Aldosterone ; Amenorrhea ; Androgen-Insensitivity Syndrome ; Diagnosis, Differential ; Female ; Gonadal Steroid Hormones ; Humans ; Hydrocortisone ; Hyperaldosteronism* ; Hypertension ; Male ; Plasma ; Prednisolone ; Progesterone ; Puberty, Delayed ; Renin ; Sexual Development