Article
Endocrinology & Metabolism
Aaron Misakian, Michelle McLoughlin, Louisa C. Pyle, Thomas F. Kolon, Andrea Kelly, Maria G. Vogiatzi
Summary: This study investigated bone mineral density and body composition in adolescents with CAIS, showing a bone mass deficit in this population. Further research is needed to understand the extent of BMD abnormalities, the impact of early gonadectomy, and the optimal hormone replacement therapy regimen for bone accrual. Data on lean mass were reassuring.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Review
Biochemistry & Molecular Biology
Nina Tyutyusheva, Ilaria Mancini, Giampiero Igli Baroncelli, Sofia D'Elios, Diego Peroni, Maria Cristina Meriggiola, Silvano Bertelloni
Summary: Complete Androgen Insensitivity Syndrome (CAIS) is a rare condition caused by complete resistance to androgens, resulting in a female phenotype in individuals with a 46,XY karyotype. Proper management and treatment are crucial for improving the long-term quality of life for these patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Endocrinology & Metabolism
Maria Santa Rocca, Giovanni Minervini, Cinzia Vinanzi, Alberto Bottacin, Federica Lia, Carlo Foresta, Maria Pennuto, Alberto Ferlin
Summary: This study evaluated the frequency and type of androgen receptor (AR) gene variants in a large cohort of infertile males. The study found that patients with AR gene variants had lower sperm count, higher testosterone concentration, and higher androgen sensitivity index compared to patients without variants. Two novel potentially pathogenic AR variants were identified. Based on these findings, AR sequencing is suggested as a routine genetic test in cases of idiopathic oligozoospermia with high testosterone levels.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Medical Laboratory Technology
Dan Zhou, Hua Xu, Xiaorong Shen, Ruihuan Gu, Ying Chen, Guowu Chen, Pan Li, Huijuan Shi, Xiaoxi Sun, Aijie Xin
Summary: This study reported a novel mutation in the AR gene causing androgen insensitivity syndrome, which resulted in decreased mRNA and protein expression as well as reduced protein stability. In addition, the mutant AR failed to bind to ligand and translocate from cytoplasm to nucleus.
CLINICA CHIMICA ACTA
(2022)
Review
Endocrinology & Metabolism
E. Delli Paoli, S. Di Chiano, D. Paoli, A. Lenzi, F. Lombardo, F. Pallotti
Summary: Androgen insensitivity syndrome (AIS) is a disorder characterized by peripheral androgen resistance due to androgen receptor mutations in individuals with a 46 XY karyotype. The severity of hormone resistance determines the wide variety of phenotypes. A multidisciplinary approach involving physicians, surgeons, and psychologists is recommended for the management of AIS, to provide support in gender identity choices and appropriate therapeutic decisions.
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
(2023)
Article
Pediatrics
Aikaterini Kapama, Dimitrios T. T. Papadimitriou, George Mastorakos, Nikolaos F. F. Vlahos, Maria Papagianni
Summary: Complete Androgen Insensitivity Syndrome (CAIS) is a rare genetic condition characterized by mutations in the androgen receptor (AR) gene, resulting in resistance to androgens and a female phenotype in genetically male individuals. This study reports a case of CAIS in a 16-year-old patient, diagnosed through clinical evaluation, hormonal assessment, imaging studies, and genetic testing, highlighting the importance of prompt diagnosis and proper management.
Review
Medicine, Research & Experimental
Min Guo, Jin-Cheng Huang, Cui-Fen Li, Yan-Yan Liu
Summary: This case report presents a 31-year-old patient with complete androgen insensitivity syndrome (CAIS) who was misdiagnosed as an inguinal hernia twice before. The patient underwent bilateral gonadectomy and hormone replacement therapy, and a Leydig cell tumor of the right testis was discovered postoperatively. The report also reviews the current understanding of the diagnosis and treatment of CAIS.
JOURNAL OF INTERNATIONAL MEDICAL RESEARCH
(2023)
Article
Biochemistry & Molecular Biology
Shahrzad Aghaei, Sepideh Parvizpour, Effat Farrokhi, Newsha Molavi, Marziyeh Hoseinzadeh, Mohammad Amin Tabatabaiefar
Summary: This study utilized Whole Exome Sequencing and bioinformatics analysis to identify the underlying cause of DSD in a consanguineous Iranian family. A novel pathogenic variant in the AR gene was identified, leading to the loss of AR function and causing complete androgen insensitivity syndrome.
JOURNAL OF BIOMOLECULAR STRUCTURE & DYNAMICS
(2023)
Article
Andrology
Guangjie Chen, Dongyan Zhao, Linfeng Zhu, Yijun Zhao, Jiahua Zhang, Xiaohao Wang, Hongjuan Tian, Daxing Tang, Qiang Shu, Shenglong Qiao
Summary: A novel mutation in the androgen receptor gene was identified in a patient diagnosed with complete androgen insensitivity syndrome (AIS), expanding the spectrum of AR mutations and highlighting the potential of targeted exome sequencing in diagnosing complex disorders in sexual development. This study presented a case of a patient with a 46, XY karyotype presenting as female and with normal female external genitalia, demonstrating the role of AR gene mutations in AIS.
Article
Genetics & Heredity
Leilei Ding, Duoduo Zhang, Fengxia Yao, Min Luo, Shan Deng, Qinjie Tian
Summary: This study identified a deletion variant in three generations of a family with CAIS, including four carriers and four patients. One patient developed gonadal malignancy. The study verified the genetic pattern and clinical characteristics of CAIS, providing useful information for prenatal diagnosis and genetic counseling of similar families.
FRONTIERS IN GENETICS
(2023)
Review
Biology
Anca Lucia Pop, Bogdana Adriana Nasui, Roxana Georgiana Bors, Ovidiu Nicolae Penes, Ana Gabriela Prada, Eliza Clotea, Simona Crisan, Calin Cobelschi, Claudia Mehedintu, Monica Mihaela Carstoiu, Valentin Nicolae Varlas
Summary: Menopause is a natural stage of hormonal aging in women, causing symptoms that negatively impact the quality of life. There is ongoing research on pharmacological resources, emerging therapies, and hormonal replacement therapy (HRT) for menopause. A comprehensive search of relevant studies was conducted, and 62 randomized controlled trials (RCTs) focusing on epidemiology, HRT, emerging therapies, and menopause were selected. HRT has shown health benefits, but further studies are needed to improve menopause-related therapies and enhance patient safety.
Article
Obstetrics & Gynecology
Kai Wang, Qi Wang, Jing Chen, Yu Wang, Xue Ma
Summary: Androgen insensitivity syndrome (AIS) is a rare genetic disorder caused by mutations in the androgen receptor (AR) gene. This report presents a case of CAIS in a 10-year-old girl, confirmed through clinical, imaging, and genetic evaluations. Histological examination of the resected gonad showed abnormal testicular tissue.
REPRODUCTIVE SCIENCES
(2022)
Article
Oncology
Savita Arora, Neha Sharma, Arun Rathi, Kishore Singh, Kavita Sehrawat
Summary: Androgen insensitivity syndrome (AIS) is a rare X-linked recessive disorder that causes hormone resistance due to alterations in the androgen receptor gene, resulting in three main phenotypes: complete AIS, partial AIS, or mild AIS. Symptoms vary from impaired spermatogenesis in phenotypically normal males to primary amenorrhea in phenotypically normal women. Treatment focuses on the risk of malignant transformation, accurate diagnosis, and effective management.
JOURNAL OF CANCER RESEARCH AND THERAPEUTICS
(2021)
Article
Genetics & Heredity
Yuan Yuan, Wen-Qing Xu, Ying Chen, Tao Luo, Hou-Yang Chen
Summary: This study reported a rare case of mild Androgen Insensitivity Syndrome (AIS) with normal serum hormones in a Chinese family. Genetic analysis revealed a novel AR gene mutation inherited from the mother. The findings provide new insights into the mechanism of AR gene mutations in MAIS.
FRONTIERS IN GENETICS
(2022)
Article
Genetics & Heredity
Lu Jiang, Peng Jia, Baofeng Duan, Yan Zhang
Summary: In this study, a case of complete androgen insensitivity syndrome (CAIS) was reported in a patient who was diagnosed with seminoma and an extratesticular benign tumor after surgery. This is the first family report of CAIS with germ cell tumors. Whole-exome sequencing (WES) identified an uncommon mutation in the AR gene.
FRONTIERS IN GENETICS
(2023)
