scholarly journals A young infant with complete androgen insensitivity syndrome

2021 ◽  
Vol 12 (1) ◽  
pp. 74-77
Author(s):  
Fahmida Zabeen ◽  
Najia Ferdoush
Keyword(s):  
De Novo ◽  
Critical Role ◽  
Young Infant ◽  
External Genitalia ◽  
Androgen Insensitivity Syndrome ◽  
Target Tissue ◽  
De Novo Mutations ◽  
Complete Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity ◽  
Female External Genitalia

Complete androgen insensitivity syndrome (CAIS) is a rare X-linked recessive disorder resulting from maternally inherited or de novo mutations involving the androgen receptor (AR) gene. The AR is a vital steroid hormone receptor that has a critical role in male sexual differentiation and development and preservation of the male phenotype. The diagnosis of CAIS is based on the presence of female external genitalia in an individual with 46, XY karyotype having normally developed but undescended testes and target tissue unresponsiveness to androgen. Our case presented at the age of 2 months with asymmetric labia majora with bilateral labial mass. Ultrasonography revealed absence of female internal genital organs and presence of testes at labial folds. The child was found to have 46, XY karyotype. BIRDEM Med J 2022; 12(1): 74-77

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

2013 ◽  
Vol 2013 ◽  
pp. 1-3 ◽  
Author(s):  
Alfonsa Pizzo ◽  
Antonio Simone Laganà ◽  
Irene Borrielli ◽  
Nella Dugo
Keyword(s):  
Rare Case ◽  
External Genitalia ◽  
Androgen Insensitivity Syndrome ◽  
The Body ◽  
Normal Female ◽  
Complete Androgen Insensitivity Syndrome ◽  
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.

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

2013 ◽  
Vol 2013 ◽  
pp. 1-6 ◽  
Author(s):  
Marco Nezzo ◽  
Pieter De Visschere ◽  
Guy T'Sjoen ◽  
Steven Weyers ◽  
Geert Villeirs
Keyword(s):  
External Genitalia ◽  
Proximal Part ◽  
Androgen Insensitivity Syndrome ◽  
Primary Amenorrhea ◽  
Normal Female ◽  
Adult Women ◽  
Complete Androgen Insensitivity Syndrome ◽  
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.

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 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 A novel de novo androgen receptor nonsense mutation in a sex-reversed 46,XY infant

2021 ◽  
Vol 8 (1) ◽  
Author(s):  
Kok-Siong Poon ◽  
Karen Mei-Ling Tan ◽  
Kah Yin Loke
Keyword(s):  
Androgen Receptor ◽  
Dna Binding ◽  
Nonsense Mutation ◽  
De Novo ◽  
Androgen Insensitivity Syndrome ◽  
De Novo Mutation ◽  
Dna Binding Domain ◽  
Exon 2 ◽  
Complete Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity

AbstractAn infant with 46,XY karyotype, and unambiguous female phenotype was found to have testes in the inguinal regions. Capillary sequencing of the androgen receptor (AR) gene identified a hemizygous de novo mutation (NM_000044.6:c.1621G > T) in exon 2 resulting in a termination codon p.(Glu541*) at the DNA binding domain (DBD). This novel nonsense mutation adds to the compendium of AR mutations which result in complete androgen insensitivity syndrome (AIS).

La sindrome di Morris

2009 ◽  
pp. 93-105
Author(s):  
Chiara Simonelli ◽  
Veronica Vizzari ◽  
Alessandra Perilli
Keyword(s):  
Receptor Gene ◽  
External Genitalia ◽  
Androgen Receptor Gene ◽  
Androgen Insensitivity Syndrome ◽  
Gender Assignment ◽  
Minimal Impact ◽  
Androgen Insensitivity ◽  
Precise Diagnosis ◽  
Female External Genitalia ◽  
Terapia Ormonale

The Morris syndrome. Androgen insensitivity syndrome (AIS) is a genetic disease caused by mutations in the androgen receptor gene. AIS patients are individuals with a 46, XY karyotype. The phenotype consists in female external genitalia, short vagina, absent mullerian structures, and abdominal, inguinal or intralabial primordial testes. Precise diagnosis, that differentiating between complete (CAIS) and partial (PAIS) form, requires clinical and hormonal investigation and is of great importance for appropriate gender assignment. The CAIS has a minimal impact of one in 99,000 births, for the PAIS, however, there aren't some statistics available, but generally it should be with a lower impact, approximately ten times less than CAIS.Key words: Morris syndrome, androgen insensitivity syndrome, CAIS, PAIS, gonadectomy, hormonal replacement therapy, vaginal ipoplasia.Parole chiave: sindrome di Morris, sindrome da insensibilitŕ agli androgeni, CAIS, PAIS, gonadectomia, terapia ormonale sostitutiva, ipoplasia vaginale.

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

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 ◽  
Androgen Insensitivity Syndrome ◽  
Normal Female ◽  
Bilateral Inguinal Hernia ◽  
Complete Androgen Insensitivity Syndrome ◽  
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

scholarly journals Androgen Insensitivity Syndrome: Somatic Mosaicism of the Androgen Receptor in Seven Families and Consequences for Sex Assignment and Genetic Counseling

2005 ◽  
Vol 90 (1) ◽  
pp. 106-111 ◽  
Author(s):  
Birgit Köhler ◽  
Serge Lumbroso ◽  
Juliane Leger ◽  
Francoise Audran ◽  
Enric Sarret Grau ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Androgen Receptor ◽  
De Novo ◽  
Somatic Mosaicism ◽  
Androgen Insensitivity Syndrome ◽  
De Novo Mutation ◽  
Wild Type ◽  
De Novo Mutations ◽  
Androgen Insensitivity ◽  
Sex Assignment

Abstract Androgen insensitivity syndrome (AIS) is caused by numerous mutations of the androgen receptor (AR) gene. The phenotype may range from partial AIS (PAIS) with ambiguous genitalia to complete AIS (CAIS) with female genitalia. In 70% of the cases, AR mutations are transmitted in an X-linked recessive manner through the carrier mothers, but in 30%, the mutations arise de novo. When de novo mutations occur after the zygotic stage, they result in somatic mosaicisms, which are an important consideration for both virilization in later life—because both mutant and wild-type receptors are expressed—and genetic counseling. We report here six patients with AIS due to somatic mutations of the AR and one mother with somatic mosaicism who transmitted the mutation twice. Of the four patients with PAIS, three presented spontaneous or induced virilization at birth or puberty. These cases underline the crucial role of the remnant wild-type AR for virilization because the same mutations, when they are inherited, lead to CAIS. We also report two novel mutations of the AR, with somatic mosaicism, detected in patients with CAIS. Thus, the remnant wild-type receptor does not always lead to virilization. In one of these patients, a high ratio of wild-type to mutant AR expression was found in the gonads and genital skin fibroblasts. Although no prenatal virilization occurred, the possibility of virilization at puberty could not be excluded, and early gonadectomy was performed. A seventh patient had a CAIS with a novel germline AR mutation. The mutation was inherited from the mother, in whom mosaicism was detected in blood and who transmitted the mutation to a second, XX, offspring. The detection of somatic AR mutations is particularly important for the clinical management and genetic counseling of patients with AIS. Before definite sex assignment, a testosterone treatment trial should be performed in all patients with PAIS, but it becomes crucial when an AR mosaicism has been detected. In patients with CAIS or severe PAIS raised as female, there is no consensus about when (early childhood or puberty) gonadectomy should be performed. When somatic AR mutations are detected, however, gonadectomy should be performed earlier because of the risk of virilization during puberty. When a germline de novo mutation is identified in the index case, the risk of transmission to a second child due to a possible germ cell mosaicism in the mother cannot be excluded. However, given the high number of AR de novo mutations and the rarity of such reports, this risk appears to be very low.

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