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 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 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.

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.

scholarly journals XY Female: Two Cases with Different Gonads presenting as Primary Amenorrhea

2012 ◽  
Vol 4 (1) ◽  
pp. 23-25
Author(s):  
Badekai Poornima Ramachandra Bhat ◽  
H Mahesha Navada
Keyword(s):  
Hormone Replacement ◽  
Tumor Development ◽  
Androgen Insensitivity Syndrome ◽  
The Other ◽  
Delayed Puberty ◽  
Primary Amenorrhea ◽  
Complete Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity ◽  
Swyer Syndrome ◽  
Xy Female

ABSTRACT Two 18-year-old female patients admitted to the hospital with the complaints of primary amenorrhea. The clinical examination and investigations revealed one of them as complete androgen insensitivity syndrome and the other Swyer syndrome. Bilateral gonadectomy was performed and hormone replacement therapy started for both the patients. These two conditions should be considered in the differential diagnosis in every adolescent female patient with delayed puberty and the importance of early gonadectomy should be stressed in order to avoid the risk of gonadal tumor development. How to cite this article Bhat BPR, Navada HM. XY Female: Two Cases with Different Gonads presenting as Primary Amenorrhea. World J Endocr Surg 2012;4(1):23-25.

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.

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 Complete Androgen Insensitivity and Decreased Bone Mineral Density

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A778-A779
Author(s):  
Elizabeth M Bauer ◽  
Thanh Duc Hoang
Keyword(s):  
Bone Mineral Density ◽  
Bone Mineral ◽  
Hormone Replacement ◽  
Estrogen Therapy ◽  
The United States ◽  
Androgen Insensitivity Syndrome ◽  
United States Government ◽  
Mineral Density ◽  
Complete Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity

Abstract Background: Complete androgen insensitivity syndrome (CAIS) is a rare disorder of sex development and primary amenorrhea results in an XY karyotype but female phenotype. Patients with this syndrome have lower bone mineral density (BMD) when compared to age matched controls. Clinical Case: A 44-year-old phenotypic woman with a history of complete androgen insensitivity syndrome presented for follow-up. She was previously on hormone replacement therapy (HRT) at various doses from the age of 12 until her early 30s when her therapy became sporadic. At age 40, she was prescribed transdermal estrogen therapy but discontinued soon after a dermatologic reaction and had not been on any form of hormone replacement since that time. Past medical history was significant for karyotype 46 XY, osteochondritis dissecans of right ankle and bilateral orchiectomy at age 4. She was single with one adopted child. Physical examination showed a height 75 inches, weight 244 lbs and a normal heart, lung, and abdominal examinations. Laboratory results showed estradiol 12.3pg/mL(7.63-42.6), total testosterone 12.0 ng/dL(7-40), FSH 109.6 mIU/mL(25.8-134.8), LH 42.49 mIU/mL(7.7-58.5), anti-mullerian hormone < 0.015 ng/mL (0.26-5.81), inhibin B <7.0 pg/mL(<17), androstenedione 48 ng/dL(41-262), dihydrotestosterone 2.7 ng/dL(4-22) and dehydroepiandrosterone sulfate 209 ng/dL(31-701). A baseline DXA showed low bone density for age with T-score (Z-score) of -2.0 (-1.6) lumbar-spine; -1.6 (-1.2) femoral neck, -1.1 (-0.8) total hip and -2.5 (-2.0) forearm. Discussion:CAIS is caused by a mutation in the androgen receptor (AR) located on the X-chromosome causing complete unresponsiveness to androgen hormone. Karyotype is XY but feminization occurs due to aromatization of androgen to estrogen. Gonadectomy for testicular malignancy prevention is controversial as testicular tumors in CAIS is generally low and gonadal resection subjects individuals to lifelong hormone replacement. These patients also have lower BMD when compared to female or male age matched controls. This is even more apparent in those with removed gonads. Low BMD is exacerbated by poor compliance, inadequate dose or inappropriate HRT. Whether or not fracture risk is higher has yet to be elucidated. Currently, there is no guideline on how to manage low BMD including osteoporosis in this patient population. It is important to counsel patients with CAIS on BMD loss and to ensure optimization of factors that affect bone health including compliance with HRT, vitamin D/calcium intake and exercise. The views expressed in this article are those of the authors and do not reflect the official policy of the Department of Army/Navy/Air Force, Department of Defense, or the United States Government.

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

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