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Navigating the complexities of partial androgen insensitivity syndrome: A comprehensive case study [PDF]

SciBase Obstetrics and Gynecology
Partial Androgen Insensitivity Syndrome (PAIS) is a rare genetic disorder that poses unique challenges in clinical management. This case study delves into the clinical presentation, diagnostic journey, and management of a patient diagnosed with PAIS. The
DJ Govani, Indrė Zaparackaitė, Dept of Ped Surgery, Emergency’s Children’s Surg Hosp, Entebbe/ Evelina Children’s Hosp, London., Singh SJ, D Bhattacharya, Swamy KB, Correia RC, Midha PK, Patel RV   +8 more
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Partial Androgen Insensitivity Syndrome: aaPartial androgen insensitivity syndrome: An infrequent cause of pubertal gynecomastian infrequent cause of pubertal gynecomastia

Indian Journal of Case Reports, 2022
Gynecomastia refers to an enlargement of the breast tissue in males, caused by proliferation of glandular breast tissue.1 Pubertal gynecomastia is a common condition seen in around 60% of the adolescent boys and in most of the cases it resolves ...
Chaitanya G Yerawar, Anees Ahmed Fazle Ahmed Shaikh, Aditi Pandit, Prerana Deokar   +3 more
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Identification of Potential Genes in Pathogenesis and Diagnostic Value Analysis of Partial Androgen Insensitivity Syndrome Using Bioinformatics Analysis

Frontiers in Endocrinology, 2021
Background Androgen insensitivity syndrome (AIS) is a rare X-linked genetic disease and one of the causes of 46,XY disorder of sexual development. The unstraightforward diagnosis of AIS and the gender assignment dilemma still make a plague for this ...
Yajie Peng, Hui Zhu, Bing Han, Yue Xu, Xuemeng Liu, Huai‐Dong Song, Jie Qiao   +6 more
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Severe forms of partial androgen insensitivity syndrome due to p.L830F novel mutation in androgen receptor gene in a Brazilian family [PDF]

BMC Research Notes, 2011
Background The androgen insensitivity syndrome may cause developmental failure of normal male external genitalia in individuals with 46,XY karyotype.
Guerra-Junior Gil, de Calais Flávia L, Soardi Fernanda C, Maciel-Guerra Andréa T, Petroli Reginaldo J, de Mello Maricilda   +5 more
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Testosterone treatment for micropenis in partial androgen insensitivity syndrome

JCEM Case Reports
The optimal approach to hormonal treatment aimed at increasing penis size has been established for infant males with micropenis; however, data are limited in partial androgen insensitivity syndrome (PAIS).
Marie Shuto, Tomoyo Itonaga, Fumika Matsuda, Miwako Maeda, Noriko Oyama, Kenji Ihara   +5 more
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Central precocious puberty in partial androgen insensitivity syndrome: a 9-year follow-up

JCEM Case Reports
Androgen insensitivity syndrome (AIS) is a group of complex clinical symptoms caused by X-linked genetic defects. It results from inactivating mutations in the androgen receptor (AR) gene, leading to hormone resistance in individuals with an XY karyotype
Kaibi Chen, Hui Yao
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Laparoscopic transabdominal pre-peritoneal hernia repair with bilateral orchidectomy in partial androgen insensitivity syndrome

Journal of Minimal Access Surgery
Partial androgen insensitivity syndrome (PAIS) is a rare X-linked recessive disorder in which individuals with a 46,XY karyotype exhibit a phenotypically female appearance due to end-organ resistance to androgens.
Ritika Shrivastav, Rajesh Kumar P. Shrivastava, Rekha Shrivastava   +2 more
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A CASE OF MALE GENOTYPE WITH PREDOMINANTLY FEMALE PHENOTYPE AND PARTIAL ANDROGEN INSENSITIVITY SYNDROME: A CASE REPORT

Journal of Population Therapeutics & Clinical Pharmacology
Androgen insensitivity syndrome (AIS) is an X-linked disorder caused by mutations in the Androgen Receptor (AR) gene in which individuals with normal male karyotype 46XY and gonads can have partial to complete insensitivity to androgens, thus resulting ...
Muhammad Uzair Ishaq
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Ambiguous Genitalia in 46 XY Disorder of Sex Development: a Challenging Case of Partial Androgen Insensitivity Syndrome

Unram Medical Journal
Ambiguous genitalia, micropenis with hypospadias-hypoplastic major labia, hypoplastic Mullerian duct, primary amenorrhea and assigned as women but a male karyotype is a clinical presentation in 46 XY disorder of sex development (DSD) due to partial ...
Muhammad Freddy Candra Sitepu, Gede Made Punarbawa, I Made Putra Juliawan, Cok Erly Merlin   +3 more
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Woman with Partial Androgen Insensitivity Syndrome and Bilateral Sertoli Cell Tumor: A Rare Case Report

Scholars International Journal of Obstetrics and Gynecology, 2021
Partial Androgen Insensitivity Syndrome (PAIS), a 46XY disorder of sexual differentiation where there is partial loss of function of androgen receptors (AR).
Dr. Tandra Ghosh, Shakeela Ishrat, Prof Jasmine Banu, Md Ruhul Amin, Dr. Nighat Sultana, Sadia Afrin Munmun, Mumtahena Amir, Dr. Abhijit Roy   +7 more
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