Surgical and functional outcomes of sigmoid vaginoplasty among patients with variants of disorders of sex development by A Nowier, M Esmat, RT Hamza

“…RESULTS: The preoperative diagnoses included mullerian aplasia (16 cases), androgen insensitivity syndrome (12 cases) and previous failed vaginoplasty (3 cases). …”
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THE ROLE OF UROLOGISTS IN MANAGEMENT OF DISORDERS OF SEX DEVELOPMENT by Ilham Wahyudi, Irfan Wahyudi, Kanadi Sumadipradja, Jose RL Batubara, Arry Rodjani

“…Results: there were 133 DSD cases with the majority of cases was congenital adrenal hyperplasia (CAH) followed by androgen insensitivity syndrome (AIS). Most of the cases were diagnosed before one year old and other on pubertal period. …”
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Low androgen signaling rescues genome integrity with innate immune response by reducing fertility in humans by J. Zimmer, L. Mueller, P. Frank-Herrmann, J. Rehnitz, J. E. Dietrich, M. Bettendorf, T. Strowitzki, M. Krivega

“…We used different study groups: individuals with Differences of Sex Development (DSD), including Complete Androgen Insensitivity Syndrome (CAIS) due to mutated androgen receptor (AR), and men with idiopathic nonobstructive azoospermia. …”
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17-β-hydroxysteroid dehydrogenase type 3 deficiency: Identifying a rare cause of 46, XY female phenotype in adulthood by Catherine A. Sullivan, Jodi D. Hoffman, Joshua D. Safer

“…Based on her clinical presentation, she was initially diagnosed with partial androgen insensitivity syndrome, but ultimately found to have 17-β-HSD3 deficiency due to a homozygous mutation in the HSD17B3 gene. …”
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Functional Effects In Silico Prediction for Androgen Receptor Ligand-Binding Domain Novel I836S Mutation by Alexey Rayevsky, Dmytro Sirokha, Dariia Samofalova, Dmytro Lozhko, Olexandra Gorodna, Inga Prokopenko, Liudmyla Livshits

“…Of those, about 600 were found in androgen insensitivity syndrome (AIS) patients, among which 400 mutations affect the ligand-binding domain (LBD) of the AR protein. …”
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Establishing reproductive potential and advances in fertility preservation techniques for XY individuals with differences in sex development by Islam, R, Lane, S, Williams, S, Becker, C, Conway, G, Creighton, S

“…</p> <p><strong>Methods</strong> This is a systematic literature review evaluating original research articles and relevant reviews between 1974 and 2018 addressing DSD and fertility, in vitro maturation of sperm, and histological/ultrastructural assessment of gonadal tissue in complete and partial androgen insensitivity syndrome, 17β‐hydroxysteroid dehydrogenase type 3 and 5α‐reductase deficiency.…”

Clinical spectrum of disorders of sex development: A cross-sectional observational study by Sheeraz A Dar, Mudasir Nazir, Roumissa Lone, Duri Sameen, Ikhlas Ahmad, Wasim A Wani, Bashir A Charoo

“…Turner syndrome, Klinefelter syndrome, androgen insensitivity syndrome, 46, XX ovotesticular disorder, and 46, XY gonadal dysgenesis were diagnosed in 3, 3, 4, 3, and 5 patients, respectively. …”
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The coronal and sagittal parameters before and after posterior spinal fusion with all pedicle screw construct in adolescent idiopathic scoliosis (AIS) patients and comparing their... by Wai-Wang Chau, Bobby Kin-Wah Ng, Alec Lik-Hang Hung

“…Background: Sagittal balance in severe androgen insensitivity syndrome (AIS) patient has been difficult to study due to problems with imaging technique. …”
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Chromosomal Studies in Individuals with Infertility by Maria Elena de la Torre Santos, Manuela Herrera Martínez, Ana Esther Algora Hernández, Gisela Noche Gonzalez, Arlan Machado Rojas, Madeivy Paz Garcia, Diley Rodríguez Conde, Estrella Reyes Hernández, Carolina Machado de la Torre, Daniel González Benítez

“…The diagnosis of six women with karyotype 46, XY (Androgen insensitivity Syndrome) and two 45, X/46,XY (Mixed gonadal dysgenesis) was significant. …”
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Laparoscopic inguinal hernia repair in a young female with associated multiple congenital defects: A rare case by Tajamul Rashid, Musharraf Husain, Syed Mohammad Salman, Sonali Ohri, Nikhat Sartaj

“…Young females with groin hernias need to be evaluated thoroughly for features of androgen insensitivity syndrome or any underlying genetic disorder. …”
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Testosterone-induced increase in libido in a patient with a loss-of-function mutation in the AR gene by Laura Marino, Andrea Messina, James S Acierno Jr, Franziska Phan-Hug, Nicolas J Niederländer, Federico Santoni, Stefano La Rosa, Nelly Pitteloud

“…Complete androgen-insensitivity syndrome (CAIS), a disorder of sex development (46,XY DSD), is caused primarily by mutations in the androgen receptor (AR). …”
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Gender Dysphoria: A Review Investigating the Relationship Between Genetic Influences and Brain Development by Boucher FJO, Chinnah TI

“…An investigation into complete androgen insensitivity syndrome, involving androgen receptor (AR) gene mutation, suggests that such individuals also experience GD. …”
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Chromosomal Studies In Individuals With Infertility by Maria Elena de la Torre Santos, Manuela Herrera Martinez, Ana Esther Algora Hernandez, Gisela Noche Gonzalez, Arlan Machado Rojas, Madeivy Paz Garcia, Diley Rodriguez Conde, Estrella Reyes Hernandez, Carolina Machado de la Torre, Daniel Gonzalez Benitez

“…The diagnosis of seven women with karyotype 46, XY (Androgen insensitivity Syndrome) and two 45,X/46,XY (Mixed gonadal dysgenesis) was significant. …”
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The fate of the duplicated androgen receptor in fishes: a late neofunctionalization event? by Haendler Bernard, Laudet Vincent, Vlaeminck-Guillem Virginie, Ahrens-Fath Isabelle, Boussau Bastien, Brunet Frédéric, Douard Véronique, Guiguen Yann

“…</p> <p>Conclusion</p> <p>The comparison of the mutations present in these divergent AR-B with those known in human to be implicated in complete, partial or mild androgen insensitivity syndrome suggests that the existence of two distinct AR duplicates may be correlated to specific functional differences that may be connected to the well-known plasticity of sex determination in fish. …”
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Up-regulation of SOX9 in sertoli cells from testiculopathic patients accounts for increasing anti-mullerian hormone expression via impaired androgen receptor signaling. by Kuo-Chung Lan, Yen-Ta Chen, Chawnshang Chang, Yung-Chiao Chang, Hsin-Jung Lin, Ko-En Huang, Hong-Yo Kang

“…In adult patients with Sertoli-cells-only syndrome (SCOS) and androgen insensitivity syndrome (AIS), high level of AMH expression is detected in Sertoli cells due to defect of androgen/AR signaling. …”
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Hypogonadism and Cryptorchidism by Wiwat Rodprasert, Wiwat Rodprasert, Helena E. Virtanen, Helena E. Virtanen, Juho-Antti Mäkelä, Juho-Antti Mäkelä, Jorma Toppari, Jorma Toppari, Jorma Toppari

“…This explains the increased prevalence of cryptorchidism among boys with diseases or syndromes associated with congenitally decreased secretion or action of androgens, such as patients with congenital hypogonadism and partial androgen insensitivity syndrome. There is evidence to support that cryptorchidism is associated with decreased testicular hormone production later in life. …”
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Clinical Evaluation of a Custom Gene Panel as a Tool for Precision Male Infertility Diagnosis by Next-Generation Sequencing by Rossella Cannarella, Vincenza Precone, Giulia Guerri, Gian Maria Busetto, Gian Carlo Di Renzo, Sandro Gerli, Elena Manara, Astrit Dautaj, Matteo Bertelli, Aldo Eugenio Calogero

“…The panel consisted of 110 genes exploring the genetic causes of male infertility; namely spermatogenesis failure due to single-gene mutations, central hypogonadism, androgen insensitivity syndrome, congenital hypopituitarism, and primary ciliary dyskinesia. …”
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The T850D Phosphomimetic Mutation in the Androgen Receptor Ligand Binding Domain Enhances Recruitment at Activation Function 2 by Christine Helsen, Tien Nguyen, Thomas Vercruysse, Staf Wouters, Dirk Daelemans, Arnout Voet, Frank Claessens

“…Loss- or gain-of-function of the AR contributes to pathologies such as the androgen insensitivity syndrome and prostate cancer. Here, we describe a gain-of-function mutation of the surface-exposed threonine at position 850, located at the amino-terminus of Helix 10 (H10) in the AR LBD. …”
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A young girl with right ovarian torsion and left ovarian ectopy by Giuliana Morabito, Alessandro Daidone, Flora Murru, Marianna Iaquinto, Elena Faleschini, Egidio Barbi, Giorgio Cozzi

“…Female karyotype confirmation is mandatory to differentiate it from complete androgen insensitivity syndrome and 17-alpha-hydroxylase deficiency. …”
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Dermatologic care of patients with differences of sex development by Sarah Gold, BA, Christina Huang, BS, Rakan Radi, MD, Pranav Gupta, MBBS, Eric I. Felner, MD, MS, Jeehea Sonya Haw, MD, Krista Childress, MD, Nancy Sokkary, MD, Vin Tangpricha, MD, PhD, Michael Goodman, MD, MPH, Howa Yeung, MD, MSc

“…Testosterone replacement, commonly used for Klinefelter syndrome, androgen insensitivity syndrome, 5-alpha reductase deficiency, gonadal dysgenesis, or ovotesticular DSD, may cause acne.…”
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