scholarly journals Complete androgen insensitivity syndrome

2015 ◽  
Vol 143 (3-4) ◽  
pp. 214-218
Author(s):  
Milina Tancic-Gajic ◽  
Svetlana Vujovic ◽  
Miomira Ivovic ◽  
Ljiljana Marina ◽  
Zorana Arizanovic ◽  
...  
Keyword(s):  
Hormone Replacement ◽  
Disorders Of Sex Development ◽  
External Genitalia ◽  
Vaginal Surgery ◽  
Serum Testosterone ◽  
Androgen Insensitivity Syndrome ◽  
Breast Development ◽  
Adult Males ◽  
Androgen Insensitivity ◽  
Vaginal Length

Introduction. Androgen insensitivity syndrome (AIS) belongs to disorders of sex development, resulting from complete or partial resistance to the biological actions of androgens in persons who are genetically males (XY) with normally developed testes and age-appropriate for males of serum testosterone concentration. Case Outline. A 21-year-old female patient was admitted at our Clinic further evaluation and treatment of testicular feminization syndrome, which was diagnosed at the age of 16 years. The patient had never menstruated. On physical examination, her external genitalia and breast development appeared as completely normal feminine structures but pubic and axillary hair was absent. Cytogenetic analysis showed a 46 XY karyotype. The values of sex hormones were as in adult males. The multisliced computed tomography (MSCT) showed structures on both sides of the pelvic region, suggestive of testes. Bilateral orchiectomy was performed. Hormone replacement therapy was prescribed after gonadectomy. Vaginal dilatation was advised to avoid dyspareunia. Conclusion. The diagnosis of complete androgen insensitivity is based on clinical findigs, hormonal analysis karyotype, visualization methods and genetic analysis. Bilateral gonadectomy is generally recommended in early adulthood to avoid the risk of testicular malignancy. Vaginal length may be short requiring dilatation in an effort to avoid dyspareunia. Vaginal surgery is rarely indicated for the creation of a functional vagina.

scholarly journals Rare case of two siblings with complete androgen insensitivity syndrome

2021 ◽  
Vol 10 (12) ◽  
pp. 4585
Author(s):  
Ambika Shankar ◽  
Oby Nagar ◽  
Suwaram Saini ◽  
Babita .
Keyword(s):  
Hormone Replacement ◽  
Serum Testosterone ◽  
Androgen Insensitivity Syndrome ◽  
Normal Breast ◽  
Breast Development ◽  
Primary Amenorrhea ◽  
Gender Assignment ◽  
Complete Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity ◽  
Operative Recovery

Androgen insensitivity syndrome (AIS) also called testicular feminizing syndrome is a rare X linked disorder of sexual differentiation caused by mutation in the androgen receptor (AR) gene, which is located on the X chromosome (Xq11-q12). In the reported cases, individuals with complete androgen insensitivity syndrome (CAIS) presented with a female appearance and normal breast development, absence of uterus and ovaries, bilateral undescended testis, and elevated testosterone levels. The syndrome is usually detected on evaluation of a phenotypic female with primary amenorrhea who presents for treatment of infertility. Here, we report 2 cases of CAIS in siblings 21 and 19 years of age who presented to us with primary amenorrhea. The elder sibling presented to us with primary amenorrhea, thelarche +, absent adrenarche, blind pouch of vagina, b/l inguinal masses suggestive of undescended testes, raised serum testosterone and absent uterus on USG. While the younger sibling also presented with similar findings but had history of b/l orchidectomy at the age of 14 years. Both the sisters were admitted in our unit and the elder sister underwent b/l orchidectomy and McIndoe’s vaginoplasty. While the younger sister underwent McIndoe’s vaginoplasty on the same day. Post-operative recovery was uneventful and they were given hormone replacement therapy (HRT). AIS is a rare X linked disease caused by mutation in the AR gene. which when diagnosed early can be treated appropriately. Precise diagnosis requires clinical, hormonal and molecular investigation and is of great importance for appropriate gender assignment and management in general. With timely gonadectomy, vaginoplasty or vaginal pouch deepening, hormone replacement and appropriate psychological support help the person live a healthy and almost normal life.  

scholarly journals Mobile DNA in Endocrinology: LINE-1 Retrotransposon Causing Partial Androgen Insensitivity Syndrome

2019 ◽  
Vol 104 (12) ◽  
pp. 6385-6390 ◽  
Author(s):  
Rafael Loch Batista ◽  
Katsumi Yamaguchi ◽  
Andresa di Santi Rodrigues ◽  
Mirian Yumie Nishi ◽  
John L Goodier ◽  
...  
Keyword(s):  
Disorders Of Sex Development ◽  
External Genitalia ◽  
Androgen Insensitivity Syndrome ◽  
Gonadal Hormones ◽  
Mobile Dna ◽  
Laboratory Findings ◽  
Cultured Fibroblasts ◽  
Androgen Insensitivity ◽  
Sex Development ◽  
Partial Androgen Insensitivity Syndrome

Abstract Context Androgen insensitivity syndrome (AIS) is the most common cause of disorders of sex development in 46,XY individuals. It is an X-linked condition usually caused by pathogenic allelic variants in the androgen receptor (AR) gene. The phenotype depends on the AR variant, ranging from severe undervirilization (complete AIS) to several degrees of external genitalia undervirilization. Although 90% of those with complete AIS will have AR mutations, this will only be true for 40% of those with partial AIS (PAIS). Objective To identify the genetic etiology of AIS in a large multigenerational family with the PAIS phenotype. Participants Nine affected individuals with clinical and laboratory findings consistent with PAIS and a normal exonic AR sequencing Settings Endocrine clinic and genetic institute from two academic referral centers Design Analysis of whole exons of the AR gene, including splicing regions, was performed, followed by sequencing of the 5′untranslated region (UTR) of the AR gene. Detailed phenotyping was performed at the initial diagnosis and long-term follow-up, and circulating levels of steroid gonadal hormones were measured in all affected individuals. AR expression was measured using RT-PCR and cultured fibroblasts. Results All 46,XY family members with PAIS had inherited, in hemizygosity, a complex defect (∼1100 bp) in the 5′UTR region of the AR surrounded by a duplicated 18-bp sequence (target site duplication). This sequence is 99.7% similar to an active, long, interspersed element present on the X chromosome (AC002980; Xq22.2), which was inserted in the 5′UTR of the AR gene, severely reducing AR expression and leading to PAIS. Conclusion The molecular diagnosis of PAIS remains challenging. The genomic effect of retrotransposon mobilization should be considered a possible molecular cause of AIS and other AR diseases.

A CASE REPORT ON ANDROGEN INSENSITIVITY SYNDROME

2021 ◽  
pp. 1-1
Author(s):  
Farhana Farhana
Keyword(s):  
Case Report ◽  
External Genitalia ◽  
Androgen Insensitivity Syndrome ◽  
Ring Closure ◽  
Breast Development ◽  
Normal Female ◽  
Loss Of Function ◽  
Androgen Insensitivity ◽  
History Of ◽  
Relevant Family History

Androgen Insensitivity Syndrome is an X linked disorder resulting in normal masculinization of external genitalia due to loss of function mutation in AR gene. Case Report : A 18 year old female presented with C/O not attaining menarche. Patient gives a history of lack of development of pubic and axillary hair. No history of abnormal breast development,cyclical abdominal pain or excessive weight gain. No relevant family history. O/E No palpable swellings in abdomen or bilateral inguinal region. External genitalia appear like a normal female external genitalia. The patient's karyotyping was done and it is of male genotype. The patient is diagnosed as Complete AIS as the phenotype is female and genetically male. The patient is managed by laparoscopic B/L orchidectomy with B/L deep ring closure.

scholarly journals Laparoscopy Diagnostic and Bilateral Gonadectomy in a Patient with Complete Androgen Insensitivity Syndrome (CAIS) – A Rare Case of Primary Amenorrhoea with 46XY Karyotype

2018 ◽  
Vol 11 (4) ◽  
pp. 2069-2072
Author(s):  
IB Putra Adnyana ◽  
TGN Chandragiram ◽  
Ketut Surya Negara
Keyword(s):  
Histopathological Examination ◽  
Operative Procedure ◽  
Elevated Serum ◽  
Serum Testosterone ◽  
Testicular Tissue ◽  
Androgen Insensitivity Syndrome ◽  
Breast Development ◽  
Primary Amenorrhea ◽  
Complete Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity

Bilateral laparoscopic gonadectomy is reported as an operative procedure of removing the intraabdominal gonads in individuals with complete androgen insensitivity syndrome (CAIS). We present a case of 18 year old patient who had history of primary amenorrhea. The clinical evaluation shows a female phenotype, excellent breast development, absence of hair in the groins and axillary areas and short blind vagina. In ultrasonographic examination uterus was absent. Hormonal assay showed elevated serum testosterone levels of 1,037 ng/dL. A karyotype was also performed which revealed a 46 XY. Laparoscopy diagnostic revealed absence of internal genitalia except bilateral gonads appearing as testes. The testes were removed to avoid the risk of malignancy. Histopathological examination revealed that both the masses were composed of testicular tissue. Laparoscopy allows to clearly identify, locate as well as gonadectomy in the same time. This approach results in rapid recovery with minimal blood loss and should be considered for all patient with intraabdominal gonads.

scholarly journals Disorder Of Sex Development : Ambiguous Genitalia, Partial Androgen Insensitivity Syndrome

2018 ◽  
Vol 3 (2) ◽  
pp. 1
Author(s):  
Rajuddin Rajuddin ◽  
Fauzan Fauzan
Keyword(s):  
Disorders Of Sex Development ◽  
External Genitalia ◽  
Ambiguous Genitalia ◽  
Androgen Insensitivity Syndrome ◽  
Gender Assignment ◽  
Androgen Insensitivity ◽  
Sex Development ◽  
Molecular Term ◽  
Congenital Condition ◽  
Partial Androgen Insensitivity Syndrome

Disorders of sex development (DSDs) also known as “intersex” are congenital condition by mismatch in which chromosomal, gonadal and anatomical. One in 4.500 infants is born with abnormalities of External genitalia, and mostly unexplained in molecular term. Androgen Insensitivity Syndrome (AIS) is a common cause of DSDs. Partial Androgen Insensitivity Syndrome (PAIS) is one of three broad subdivided phenotypes of AIS. Typically, characterized by evidence of feminization (i.e., undermasculinization) of the external genitalia at birth, abnormal secondary sexual development in puberty, and infertility in individuals with a 46,XY karyotype. In males characterized, Pais is common to observe a micropenis, hypospadias, and cryptorchidism. Individuals with PAIS that are characterized as women have been observe to have clitoromegaly and a fused labia during puberity . We reported a 13 year old child, with chief complaint primer amenorrhea. The patient admit as a girl but not yet got her menstruation. Patient was referred by Endocrinology Fertility and Reproductive Consultant of OBGYN, that has done Cromosomal and Hormonal analysis. We perform a laparascopy Exploratif and we get no uterus, fallopian tubal and ovarium that are exist. But, we found testis in inguinal canal.  Decision regarding gender assignment are still confronted between patient”s Family and medical staff. The prognosis is depends on the ambiguity of genital, Physical, and Physicosocial adjustment for sex assignment.

scholarly journals Complete Androgen Insensitivity Syndrome: From Bench to Bed

2021 ◽  
Vol 22 (3) ◽  
pp. 1264
Author(s):  
Nina Tyutyusheva ◽  
Ilaria Mancini ◽  
Giampiero Igli Baroncelli ◽  
Sofia D’Elios ◽  
Diego Peroni ◽  
...  
Keyword(s):  
Receptor Gene ◽  
Hormone Replacement ◽  
Basic Research ◽  
Well Being ◽  
Androgen Receptor Gene ◽  
Androgen Insensitivity Syndrome ◽  
Primary Amenorrhea ◽  
Complete Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity

Complete androgen insensitivity syndrome (CAIS) is due to complete resistance to the action of androgens, determining a female phenotype in persons with a 46,XY karyotype and functioning testes. CAIS is caused by inactivating mutations in the androgen receptor gene (AR). It is organized in eight exons located on the X chromosome. Hundreds of genetic variants in the AR gene have been reported in CAIS. They are distributed throughout the gene with a preponderance located in the ligand-binding domain. CAIS mainly presents as primary amenorrhea in an adolescent female or as a bilateral inguinal/labial hernia containing testes in prepubertal children. Some issues regarding the management of females with CAIS remain poorly standardized (such as the follow-up of intact testes, the timing of gonadal removal and optimal hormone replacement therapy). Basic research will lead to the consideration of new issues to improve long-term well-being (such as bone health, immune and metabolic aspects and cardiovascular risk). An expert multidisciplinary approach is mandatory to increase the long-term quality of life of women with CAIS.

scholarly journals Surface Rendering of External Genitalia of a Fetus at the 32nd Week of Gestation Affected by Partial Androgen Insensitivity Syndrome

2013 ◽  
Vol 2013 ◽  
pp. 1-3 ◽  
Author(s):  
Vincenzo Mazza ◽  
Emma Bertucci ◽  
Silvia Latella ◽  
Carlotta Cani ◽  
Pierluca Ceccarelli ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
External Genitalia ◽  
Androgen Insensitivity Syndrome ◽  
Surface Rendering ◽  
Sry Gene ◽  
Androgen Insensitivity ◽  
4D Ultrasound ◽  
Genital Ambiguity ◽  
Parental Counseling ◽  
Partial Androgen Insensitivity Syndrome

Objectives. To demonstrate the feasibility of the prenatal diagnosis of partial androgen insensitivity syndrome by 3D-4D ultrasound.Methods. To report prenatal diagnosis of partial androgen insensitivity syndrome at 32nd week of gestation by 3D-4D ultrasound in a fetus with a 46XY karyotype, testing negative to the mutation analysis of SRY gene and the 5α-reductase 2 gene (SRD5A2).Results. 3D-4D surface rendering allows the detection of external and internal genital malformations and can address the prenatal diagnosis of PAIS and can exclude associated complications.Conclusions. Prenatal diagnosis of PAIS allows an adequate parental counseling and an early optimal management of the condition, not only for the psychological and social reflections but also for the avoidance of complications and postnatal morbidity due to misdiagnosis or delays in the treatment of the genital ambiguity.

The subcellular defects in the androgen insensitivity syndrome

1986 ◽  
Vol 113 (4_Suppl) ◽  
pp. S396-S402
Author(s):  
W. SWOBODA ◽  
K. HERKNER
Keyword(s):  
Binding Capacity ◽  
Kinetic Method ◽  
External Genitalia ◽  
Androgen Insensitivity Syndrome ◽  
Normal Female ◽  
Androgen Insensitivity ◽  
Wide Range ◽  
Group A ◽  
Group B ◽  
Tissue Specimens

ABSTRACT The androgen insensitivity syndrome (AIS) was studied with consideration of the complexity of mechanisms involved on the intracellular level: testosterone (T) and dihydrotestosterone (DHT) receptors and the androgen-5α-reductase (A5R). Five children with "normal" female external genitalia (group A) and three patients with variable forms of ambiguity (group B), ages 1 to 18 years, were studied. Tissue specimens from genital skin were analysed for the Kd- and Nmaxvalues of the cytosolic and nuclear T- and DHT-receptors, as well as for the Km- and Vmax-data of the tissue specific A5R. The enzyme analyses were performed with a kinetic method. Results show that patients from group A mainly lack action of the nuclear DHT receptor, combined with reduces binding capacity in the cytosol. T binding was poor in both, cytosolic and nuclear fractions, respectively. Results of group B proved to be more inhomogenous, ranging from total absence of a DHT receptor to normal binding capacities in the nuclear fractions, accompanied by decreased cytosolic Nmax values for that ligand. T binding was poor in all patients of group B in the cytosolic and nuclear fractions, respectively. A5R was qualitatively normal in all patients examined, except one, but decreased enzyme activities could be observed in a wide range. In summary, the study confirms the complex mechanisms, presenting as AIS clinically. Moreover a close relationship between abnormalities of androgen receptor function and changes in A5R activity could be evaluated, thus confirming the recent theories about intracellular androgen action.

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