A CASE REPORT ON 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.

The subcellular defects in the androgen insensitivity syndrome

Acta Endocrinologica ◽

10.1530/acta.0.112s396 ◽

1986 ◽

Vol 113 (4_Suppl) ◽

pp. S396-S402

Author(s):

W. SWOBODA ◽

K. HERKNER

Keyword(s):

Binding Capacity ◽

Kinetic Method ◽

External Genitalia ◽

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.

XY female with complete androgen insensitivity syndrome with bilateral inguinal hernia

International Surgery Journal ◽

10.18203/2349-2902.isj20211325 ◽

2021 ◽

Vol 8 (4) ◽

pp. 1353

Author(s):

Aafrin Shabbir Baldiwala ◽

Vipul C. Lad

Keyword(s):

Inguinal Hernia ◽

External Genitalia ◽

Primary Amenorrhea ◽

Normal Female ◽

Bilateral Inguinal Hernia ◽

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.

Complete Androgen Insensitivity Syndrome: A Rare Case of Disorder of Sex Development

Case Reports in Obstetrics and Gynecology ◽

10.1155/2013/232696 ◽

2013 ◽

Vol 2013 ◽

pp. 1-3 ◽

Cited By ~ 4

Author(s):

Alfonsa Pizzo ◽

Antonio Simone Laganà ◽

Irene Borrielli ◽

Nella Dugo

Keyword(s):

Rare Case ◽

External Genitalia ◽

The Body ◽

Normal Female ◽

Androgen Insensitivity ◽

Sex Development ◽

Androgen Resistance ◽

Female External Genitalia

Androgen Insensitivity Syndrome (AIS) could be considered as a disease that causes resistance to androgens actions, influencing both the morphogenesis and differentiation of the body structures, and systems in which this hormone exerts its effects. It depends on an X-linked mutations in the Androgen Receptor (AR) gene that express a variety of phenotypes ranging from male infertility to completely normal female external genitalia. The clinical phenotypes of AIS could vary and be classified into three categories, as complete (CAIS), partial (PAIS), and mild (MAIS) forms, according to the severity of androgen resistance. We will describe a case of CAIS in a 16-year-old patient.

Complete androgen insensitivity syndrome

Srpski arhiv za celokupno lekarstvo ◽

10.2298/sarh1504214t ◽

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 ◽

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.

Unexpected Diagnosis of Complete Androgen Insensitivity Syndrome (CAIS) During Inguinal Hernia Repair in 11-year-old-girl

Sudan Journal of Medical Sciences ◽

10.18502/sjms.v16i1.8938 ◽

2021 ◽

pp. 70-75

Author(s):

Rayan Khalid ◽

Alaa M. Siddig ◽

Abdelrahman A. Abudoam ◽

Abdel Bagi Alzain ◽

Imad Fadl-Elmula

Keyword(s):

Inguinal Hernia ◽

Hernia Repair ◽

Inguinal Hernia Repair ◽

External Genitalia ◽

Genetic Mutation ◽

Normal Female ◽

Bilateral Inguinal Hernia ◽

Androgen Insensitivity

Complete Androgen Insensitivity Syndrome (CAIS) is an X-link recessive genetic mutation of androgen receptor (AR) gene leading to complete inability of cell to respond to the androgens. CAIS occurs in 1 out of 20,400 XY live-birth babies, and affects about 1–2% of prepubertal girls that present with an inguinal hernia. Although individuals with CAIS have XY, those with grades 6 and 7 on the Quigley scale are born phenotypically female, without any signs of genital masculinization. Thus, individuals affected by CAIS develop a normal external female phenotype with normal female external genitalia, well-developed breast, absent uterus, and bilateral undescended testicles. The question of CAIS diagnosis does not come forward until the absent menses at the puberty is noted or accidentally during an inguinal hernia repair in a premenarchal girl. The present study reports a case of inguinal hernia repair on 11-year-old girl, which led to unexpected intraoperative notion of CAIS. The diagnostic work-up, genetic counseling, sex assignment, and the need for preoperative CAIS screening in girls with bilateral inguinal hernia are described and discussed. Keywords: DSD, CAIS, bilateral inguinal hernia, gonadectomy

Role of Imaging in the Diagnosis and Management of Complete Androgen Insensitivity Syndrome in Adults

Case Reports in Radiology ◽

10.1155/2013/158484 ◽

2013 ◽

Vol 2013 ◽

pp. 1-6 ◽

Cited By ~ 2

Author(s):

Marco Nezzo ◽

Pieter De Visschere ◽

Guy T'Sjoen ◽

Steven Weyers ◽

Geert Villeirs

Keyword(s):

External Genitalia ◽

Proximal Part ◽

Primary Amenorrhea ◽

Normal Female ◽

Adult Women ◽

Androgen Insensitivity ◽

Female External Genitalia

Complete androgen insensitivity syndrome is an X-linked recessive androgen receptor disorder characterized by a female phenotype with an XY karyotype. Individuals affected by this syndrome have normal female external genitalia but agenesis of the Müllerian duct derivatives, that is, absence of the Fallopian tubes, uterus, cervix, and the proximal part of the vagina, with presence of endoabdominal, labial, or inguinal testes. The estimated prevalence is between 1 and 5 in 100,000 genetic males. Complete androgen insensitivity syndrome can be diagnosed as a result of mismatch between the prenatal sex prediction and the phenotype at birth, can be detected by chance, or remain undetected until investigations for primary amenorrhea. Imaging can be important both to diagnose the pathology and to localize gonads prior to surgical treatment. In this paper, we present three cases of complete androgen insensitivity syndrome in adult women of 34, 22, and 38 years old.

A Novel Mutation of the AR Androgen Receptor Gene

Journal of the Endocrine Society ◽

10.1210/jendso/bvab048.1413 ◽

2021 ◽

Vol 5 (Supplement_1) ◽

pp. A694-A694

Author(s):

Abdullah Abdulruhman Aljasser

Keyword(s):

Androgen Receptor ◽

Novel Mutation ◽

Receptor Gene ◽

External Genitalia ◽

Androgen Receptor Gene ◽

Loss Of Function ◽

Androgen Insensitivity ◽

Androgen Synthesis ◽

Voice Changes

Abstract Androgen insensitivity syndrome (AIS), formerly known as testicular feminization, is an X-linked recessive condition resulting in a failure of normal masculinization of the external genitalia in chromosomally male individuals. The basic etiology of androgen insensitivity syndrome is a loss-of-function mutation in the androgen receptor (AR) gene. Loss of AR function means that, despite normal levels of androgen synthesis, the typical postreceptor events that mediate the effects of hormones on tissues do not occur. This results in the phenotype of prenatal undervirilization of external genitalia, absence of pubic and axillary hair, lack of acne, and absence of voice changes at puberty We present This baby reffered at age of 2 months from pediatric surgery as a case of bilateral inguinal hernia and chromosomes 46xy. Phenotypically female no male structures no phallus and single opening and visible labia, both test are in the inguinal canals. HCG stimulation test shows: Testosterone: the level at (0) time: 0.8 nmol/l then 3 days: 31.4 nmol/l. DHT dihydrotetostrerone: the level at (0) time: 13 NG/L then 3 days: 485 The baby was given 3 doses of Testosterone injections 150mg but no response at the genetalia. Radiological investigations shows ultrasound both tests at the inguinal canals and no uterus Also MRI of pelvis shows absence of uterus and both test at the inguinal canals Molecular genetics analysis for Androgen receptor gene: Exon 7 c.2512 G >A hem. P.Glu838lys missense, novel VUS,likely pathogenic. The segregations analysis test in the process. Her we present a novel mutation of the AR gene not reported yet in literature.