Analysis of the androgen receptor (AR) gene in a cohort of Indonesian undermasculinized 46, XY DSD patients by Nurin Aisyiyah Listyasari, Achmad Zulfa Juniarto, Gorjana Robevska, Katie L. Ayers, Andrew H. Sinclair, Sultana M. H. Faradz

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A prime editor efficiently repaired human induced pluripotent stem cells with AR gene mutation (c.2710G > A; p. V904M) by Ruiqi Sun, Yiqiang Cui, Zhaode Liu, Jiayin Guo, Xin Zhang, Pinmou Zhu, Jiahao Sha, Xiaoyu Yang, Yan Yuan

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‘Distraction Vaginogenesis’: Preliminary Results Using a Novel Method for Vaginal Canal Expansion in Rats by Hannah Meyer, Lexus Trosclair, Sean D. Clayton, Collyn O’Quin, Zachary Connelly, Ross Rieger, Nhi Dao, Ahmed Alhaque, Andrew Minagar, Luke A. White, Giovanni Solitro, Mila Shah-Bruce, Valerie L. Welch, Stephanie Villalba, Jonathan Steven Alexander, Donald Sorrells

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Phenotypic and biochemical characteristics and molecular basis in 36 Chinese patients with androgen receptor variants by Hui Zhu, Haijun Yao, Yue Xu, Yan Chen, Bing Han, Nan Wang, Hao Wang, Qiang Zhang, Wenjiao Zhu, Yuanping Shi, Hua Sun, Shuangxia Zhao, Huaidong Song, Yang Liu, Jie Qiao

Subjects: “…Androgen insensitive syndrome (AIS)…”
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Categorization of differences of sex development among Egyptian children and the role of antimullerian hormone and inhibin B by Shereen Abdelghaffar, Engy Nasr AbdelMoneam, Samah A. Hassanein, Noha Abdelhalim Radwan, Marwa Farouk Mira

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Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD by Neşe Akcan, Oya Uyguner, Firdevs Baş, Umut Altunoğlu, Güven Toksoy, Birsen Karaman, Şahin Avcı, Zehra Yavaş Abalı, Şükran Poyrazoğlu, Agharza Aghayev, Volkan Karaman, Rüveyde Bundak, Seher Başaran, Feyza Darendeliler

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Disorders of sex development: A 10 years experience with 73 cases from the Kashmir Valley by Raiz Ahmad Misgar, Moomin Hussain Bhat, Shariq Rashid Masoodi, Mir Iftikhar Bashir, Arshad Iqbal Wani, Aejaz Ahsan Baba, Gowhar Nazir Mufti

“…Two patients had testosterone biosynthetic defect and one patient had partial androgen insensitivity syndrome. Of 29 patients with 46 XX DSD, 16 (55.1%) had congenital adrenal hyperplasia (CAH). …”
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Androg by Ahmed Mohammed Samy El-Agwany

“…Complete androgen insensitivity syndrome is an X-linked recessive androgen receptor disorder. …”
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A novel de novo androgen receptor nonsense mutation in a sex-reversed 46,XY infant by Kok-Siong Poon, Karen Mei-Ling Tan, Kah Yin Loke

“…This novel nonsense mutation adds to the compendium of AR mutations which result in complete androgen insensitivity syndrome (AIS).…”
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Delayed pubarche by Francesco Baldo, Egidio Barbi, Gianluca Tornese

“…In presence of other clinical signs and symptoms, delayed pubarche can be caused by single or multiple hormones deficiency (such as adrenal insufficiency, panhypopituitarism and hypothyroidism) and/or genetic conditions (Turner syndrome, androgen insensitivity syndrome). Exposition to endocrine disruptors has also been described as a possible cause of delay of pubic hair development. …”
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Diagnosis of female 17α-hydroxylase deficiency after gonadectomy: a case report by Yukiko Mikami, Yasushi Takai, Mana Obata-Yasuoka, Ryo Kumagai, Hiroaki Yagyu, Kosuke Shigematsu, Haipeng Huang, Nozomi Uemura, Mamiko Shinsaka, Masahiro Saitoh, Kazunori Baba, Hiroyuki Seki

“…We report a case of a 29-year-old woman who had undergone gonadectomy in her childhood due to complete androgen insensitivity syndrome and was diagnosed with 17α-hydroxylase deficiency in adulthood. …”
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Complete Morris Syndrome. Case Presentation by Manyeles Brito Vázquez, Ángela Belkis Brito García, Delvis Batista García

“…Androgen insensitivity syndrome, Morris syndrome or testicular feminization is a disorder in sexual differentiation, in which the individual is phenotypically feminine, but with a man's genetic characteristics. …”
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Primary Amenorrhea Due to Anatomical Abnormalities of the Reproductive Tract: Molecular Insight by Karina Kapczuk, Witold Kędzia

“…Primary amenorrhea may also be the first presentation of complete androgen insensitivity syndrome, steroid 5α-reductase type 2 deficiency, 17β-hydroxysteroid dehydrogenase type 3 deficiency, and Leydig cells hypoplasia type 1; therefore, these disorders should be considered in the differential diagnosis of the congenital absence of the uterus and vagina. …”
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Complete Morris Syndrome. Case Presentation by Manyeles Brito Vázquez, Ángela Belkis Brito García, Delvis Batista García

“…Androgen insensitivity syndrome, Morris syndrome or testicular feminization is a disorder in sexual differentiation, in which the individual is phenotypically feminine, but with a man's genetic characteristics. …”
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Criteria of Clinical Diagnostics and Choice of Treatment Strategy in Children with Disoders of Sexual Development by N.V. Bolotova, D.A. Morozov, N.U. Raygorodskaya, D.A. Zharkov, M.M. Grigorjeva, E.N. Tsmokalyuk

“…Considering the data DSD in children from Saratov compose sex chromosome DSD - 21,4 %, Gonadal dysgenesis - 26,2%, ovotesticular DSD - 2,3%, 46,ХХ testicular DSD - 2,3 %, complete androgen insensitivity syndrome - 4,7%. The criteria of gender assignment and surgical approach have been described in the article. …”
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Genetic Analysis For The Diagnosis of Disorders of Sexual Development in Indonesia by Sultana MH Faradz

“…Most of the genetically proven cases were Congenital Adrenal hyperplasia, Androgen Insensitivity syndrome and sex chromosomal DSD that lead abnormal gonadal development.  …”
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One hundred twelve cases of 46, XY DSD patients after initial gender assignment: a short-term survey of gender role and gender dysphoria by Liping Hou, Ming Zhao, Lijun Fan, Bingyan Cao, Jiajia Chen, Yonghua Cui, Michel Polak, Chunxiu Gong

“…Twenty-five females were reassigned to the male gender after a specific diagnosis (16/25 (64%) in 5 alfa-reductase-2 deficiency (5α-RD2), 5/25 (20%) in partial androgen insensitivity syndrome (PAIS), 4/25 (16%) in NR5A1gene mutation). …”
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A Recurrent Germline Mutation in the 5'UTR of the Androgen Receptor Causes Complete Androgen Insensitivity by Activating Aberrant uORF Translation. by Nadine C Hornig, Carine de Beaufort, Friederike Denzer, Martine Cools, Martin Wabitsch, Martin Ukat, Alexandra E Kulle, Hans-Udo Schweikert, Ralf Werner, Olaf Hiort, Laura Audi, Reiner Siebert, Ole Ammerpohl, Paul-Martin Holterhus

“…Here we describe a recurrent germline mutation found in two unrelated patients with complete androgen insensitivity syndrome (CAIS) generating an upstream open reading frame (uORF) in the 5' untranslated region (5'-UTR) of the androgen receptor (AR) gene. …”
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Gender identity and gender of rearing in 46 XY disorders of sexual development by Arushi Gangaher, Vasundhera Chauhan, Viveka P Jyotsna, Manju Mehta

“…Results: Of 11 patients with 46 XY DSD, three were diagnosed with 5 alpha reductase deficiency (5aRD), two with partial gonadal dysgenesis, three with partial androgen insensitivity syndrome, one each with ovotesticular, complete gonadal dysgenesis, and complete androgen insensitivity. …”
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Clinical, hormonal and radiological profile of 46XY disorders of sexual development by Chauhan Vasundhera, Viveka P Jyotsna, Devasenathipathy Kandasamy, Nandita Gupta

“…Results: Among 19 patients, eight were diagnosed with disorders of gonadal development (one with complete gonadal dysgenesis, four with partial gonadal dysgenesis, two with congenital bilateral anorchia, and one with ovotesticular DSD) and eight with disorders of androgen synthesis and action (one with complete androgen insensitivity syndrome [AIS], three with partial AIS and four with 5α reductase deficiency). …”
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