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 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 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.

Complete androgen insensitivity syndrome: report of a case with solitary pelvic kidney

2006 ◽  
Vol 47 (2) ◽  
pp. 222-225 ◽  
Author(s):  
H. Tokgoz ◽  
O. Turksoy ◽  
S. Boyacigil ◽  
B. Sakman ◽  
E. Yuksel
Keyword(s):  
External Genitalia ◽  
Solitary Kidney ◽  
Pubic Hair ◽  
Androgen Insensitivity Syndrome ◽  
Primary Amenorrhea ◽  
Testicular Feminization ◽  
Unilateral Renal Agenesis ◽  
Complete Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity ◽  
Contralateral Kidney

Complete androgen insensitivity syndrome, commonly known as the testicular feminization syndrome, is characterized by a 46, XY karyotype, bilateral testes, absent or hypoplastic Wolffian ducts, and female-appearing external genitalia with diminished axillary and pubic hair development. Although initial diagnosis in the child is difficult, the syndrome must be suspected after puberty if primary amenorrhea is present. Coexistence of genital defects with urologic abnormalities is expected in these cases because of close embryologic origin. However, unilateral renal agenesis with pelvic ectopia of the contralateral kidney does not seem so common. We report a case of testicular feminization syndrome with a solitary kidney located in bony pelvis on the left side.

scholarly journals Complete androgen insensitivity syndrome in a 13-year-old Lebanese child, reared as female, with bilateral inguinal hernia: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Stephanie Farah ◽  
Dana El Masri ◽  
Kamal Hirbli
Keyword(s):  
Inguinal Hernia ◽  
Androgen Receptor ◽  
Receptor Gene ◽  
Androgen Receptor Gene ◽  
Androgen Insensitivity Syndrome ◽  
Primary Amenorrhea ◽  
Homozygous Mutation ◽  
Bilateral Inguinal Hernia ◽  
Complete Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity

Abstract Background Androgen insensitivity syndrome is a rare X-linked disorder of sex development, caused by mutations in the androgen receptor. In this case, a 13-year-old child, reared as female, presenting for primary amenorrhea, was diagnosed with complete androgen insensitivity syndrome. Case presentation A 13-year-old Caucasian child, reared as female, presents with primary amenorrhea. Physical examination revealed female appearance and a short vagina with blind-ended pouch. Laboratory examination showed high levels of testosterone and anti-Müllerian hormone; uterus and ovaries were absent. Karyotype confirmed a 46,XY pattern. Deoxyribonucleic acid analysis of the androgen receptor gene revealed a homozygous mutation p.R856C in exon 7. Gender was assigned as female, and she was started on hormonal therapy and underwent gonadectomy. Conclusion Androgen insensitivity syndrome comprises a large spectrum of presentations. High index of suspicion is needed. Investigation of girls with bilateral inguinal hernia is critical.

scholarly journals XY female with complete androgen insensitivity syndrome with bilateral inguinal hernia

2021 ◽  
Vol 8 (4) ◽  
pp. 1353
Author(s):  
Aafrin Shabbir Baldiwala ◽  
Vipul C. Lad
Keyword(s):  
Inguinal Hernia ◽  
External Genitalia ◽  
Androgen Insensitivity Syndrome ◽  
Primary Amenorrhea ◽  
Normal Female ◽  
Bilateral Inguinal Hernia ◽  
Complete Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity ◽  
Primary Amenorrhoea ◽  
The Individual

The complete androgen insensitivity syndrome (AIS), previously called testicular feminization syndrome, is an X-linked recessive rare disorder. AIS is the most common male pseudohermaphrodite. Patient has 46, XY chromosome and testis. The individual is phenotypically female and genotypically male. Antimullerian hormone is produced by the testis. So, uterus and fallopian tubes do not develop in fetus. The fault lies with androgen receptors which are mutated. Male differentiation of external genitals does not occur. The individuals are reared as girls and the condition is suspected when the individual is evaluated for primary amenorrhea, infertility or when unilateral/bilateral inguinal hernia is diagnosed in girls. This disorder includes a spectrum of changes ranging from male infertility to completely normal female external genitalia in a chromosomally male individual. These cases need proper diagnosis and appropriate management. We report this case for its interesting presentation. The patient is a 23 year old female, presented with bilateral labial swellings and primary amenorrhoea. Subsequent investigations were done which revealed that the patient is a genetically male with absence of female internal genitalia but presence of testes. Proper psychological support was also given to her, which is more important.

scholarly journals ANDROGEN INSENSITIVITY SYNDROME – A CASE REPORT

2021 ◽  
Vol 5 (8) ◽  
Author(s):  
Rohit Kiran Phadnis ◽  
Niharika Arram ◽  
Neha Gala ◽  
Faiz Hussain ◽  
Nikhita Yadav
Keyword(s):  
Case Report ◽  
Gender Identity ◽  
Proper Time ◽  
Hormone Replacement ◽  
Testicular Tissue ◽  
Androgen Insensitivity Syndrome ◽  
Primary Amenorrhea ◽  
Psychological Issues ◽  
Androgen Insensitivity ◽  
Müllerian Agenesis

Background:  AIS is one of the most commonly diagnosed XY DSD, with an estimated prevalence of 2:100.000 to 5:100.0001 and an incidence of 1:20.0002 to 1:99.0003. The name testicular feminization syndrome was coined by John McLean Morris of Yale University in 1953. The first description of this syndrome dates back to 1817, as quoted by Morris 4. It is the third most common cause of primary amenorrhea after gonadal dysgenesis and Mullerian agenesis 5. Case Report and Discussion: A 15-year-old phenotypic girl was evaluated for primary amenorrhea to find Complete Androgen Insensitivity Syndrome (CAIS) and underwent bilateral orchidectomy with plan for vaginoplasty at AIMSR, Hyderabad. Review of Literature:  The treatment of AIS is based on the reinforcement sexual identity, gender identity plan and hormone replacement therapy. The prognosis is good, if the testicular tissue is resected at proper time. Conclusion: CAIS should be considered as important differential diagnosis in delayed menarche while evaluation for primary amenorrhea and early gonadectomy can avoid gender identity disorder (GID) / psychological issues Keywords: CAIS, GID

Complete Androgen Insensitivity Syndrome: The Role of the Endocrine Surgeon

2005 ◽  
Vol 71 (3) ◽  
pp. 241-243 ◽  
Author(s):  
Nicolas R. Alvarez ◽  
Theresa M. Lee ◽  
Carmen C. Solorzano
Keyword(s):  
Pubertal Development ◽  
Androgen Insensitivity Syndrome ◽  
Primary Amenorrhea ◽  
Testicular Neoplasm ◽  
Minimal Risk ◽  
Complete Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity ◽  
Healthy Female ◽  
History Of

Androgen insensitivity syndrome (AIS) is an X-linked recessive disorder characterized by varying degrees of feminization secondary to androgen receptor insensitivity. We report a case of a 34-year-old female with complete androgen insensitivity who presented with a history of primary amenorrhea and two intra-abdominal gonads found on CT scan. The patient underwent successful laparoscopic bilateral gonadectomy without complications. AIS is present in 1:20,000 to 64,000 males; complete androgen insensitivity is seen in 2–5:100,000 phenotypic females and should therefore be considered in any otherwise healthy female with abnormal pubertal development and infertility. Although controversial, most endocrinologists agree that gonadectomy may be performed after puberty with minimal risk of testicular neoplasm.

Dilemmas in management of osteoporosis in patients with complete androgen insensitivity syndrome

2021 ◽  
Vol 14 (5) ◽  
pp. e241968
Author(s):  
Tanner Slayden ◽  
Elizabeth M Bauer ◽  
Mohamed KM Shakir ◽  
Thanh Duc Hoang
Keyword(s):  
Bone Cells ◽  
Hormone Replacement ◽  
Optimal Strategies ◽  
Androgen Insensitivity Syndrome ◽  
The Body ◽  
Primary Amenorrhea ◽  
Mineral Density ◽  
Complete Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity ◽  
Sex Development

Complete androgen insensitivity syndrome (CAIS)—resulting in 46,XY karyotype, but female phenotype—is a disorder of sex development and primary amenorrhea, but its effect on bone mineral density (BMD) is singular and difficult to manage. Androgens are an important modulator of bone remodeling and health, and the androgen receptor (AR) is pivotal for signaling within the bone cells. CAIS results in a severely disrupted AR throughout the body, causing an elevated risk of early osteoporosis. Timing of gonadectomy and hormone replacement therapy protocols are not established, creating a wide variety of treatment plans and BMD profiles. Our objective is to report a patient with CAIS status post prepubertal orchiectomy that developed early osteoporosis and to describe the lack of optimal strategies and consensus available to improve bone health in this population. Additionally, our case illustrates the fact there are no guidelines advocating the use of newer drugs for osteoporosis in this population.

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