Results 81 to 90 of about 2,574,928 (152)

The Long-Term Outcome of Boys With Partial Androgen Insensitivity Syndrome and a Mutation in the Androgen Receptor Gene

Journal of Clinical Endocrinology and Metabolism, 2016
Background: In boys with suspected partial androgen insensitivity syndrome (PAIS), systematic evidence that supports the long-term prognostic value of identifying a mutation in the androgen receptor gene (AR) is lacking. Objective: To assess the clinical
A. Lucas-Herald, S. Bertelloni, A. Juul, J. Bryce, J. Jiang, M. Rodie, R. Sinnott, M. Boroujerdi, M. Johansen, O. Hiort, P. Holterhus, M. Cools, G. Guaragna-Filho, G. Guerra-Júnior, N. Weintrob, S. Hannema, S. Drop, T. Guran, F. Darendeliler, A. Nordenström, I. A. Hughes, C. Acerini, R. Tadokoro-Cuccaro, S. F. Ahmed   +23 more
semanticscholar   +1 more source

Modern competency‐based teaching of human sexual development

Anatomical Sciences Education, Volume 19, Issue 7, Page 1086-1096, July 2026.
Abstract Embryology is an integral part of anatomy and a key subject in basic medical education. The development of the sexual tract, which is closely associated with the formation of the urinary tract and the organs of continence, is particularly complex and relevant for many medical disciplines.
Elisabeth Eppler, Alessandro Bilella, Christian M. Hammer   +2 more
wiley   +1 more source

Genetic variants, clinical characteristics, and surgical treatments of 46 children with androgen insensitivity syndrome

Asian Journal of Andrology
Androgen insensitivity syndrome (AIS) is a condition that emerges from mutations in the androgen receptor (AR) gene, leading to functional defects and subsequent abnormal development of the urogenital sinus.
Xu Wen, Li-Jun Fan, Pei Liu, Jian-Han Shi, Wei-Ping Zhang, Xin Ni, Chun-Xiu Gong   +6 more
doaj   +1 more source

Gender identity and gender of rearing in 46 XY disorders of sexual development

Indian Journal of Endocrinology and Metabolism, 2016
Background: Disorders of sexual development (DSD) may pose a challenge to live as a fully-functioning male or female. In this study, we prospectively assessed eleven 46 XY DSD patients who were being treated at our center over the last 8 months for ...
Arushi Gangaher, Vasundhera Chauhan, Viveka P Jyotsna, Manju Mehta   +3 more
doaj   +1 more source

Essential embryology for the Canadian pathologists’ assistant

Anatomical Sciences Education, Volume 19, Issue 7, Page 1134-1156, July 2026.
Abstract Pathologists' assistants (PAs) are pivotal in healthcare, conducting autopsies and examining tissues under a pathologist's guidance. Embryology knowledge is crucial for PAs to accurately assess anomalies and identify pathologies. Yet, it is often overlooked in academic PA training programs.
Samantha H. Nacci, William Tsui, Fang‐I Lu, Avrum I. Gotlieb, Danielle C. Bentley   +4 more
wiley   +1 more source

Mutational analysis of the androgen receptor gene in two Indian families with partial androgen insensitivity syndrome

, 2009
Mutation in the androgen receptor gene (AR) is known to cause androgen insensitivity syndrome (AIS). In an X-linked recessive manner, an AR mutation gets transmitted to the offspring through carrier mothers in 70% of cases, the other 30% arising de novo.
Singh, S. K., D.K. Gupta, Raman, R., Gupta, D. K., S.K. Singh, A. Rastogi, Nagaraja, M. R., M.R. Nagaraja, Rastogi, A., R. Raman   +9 more
core   +1 more source

Familial novel androgen receptor gene variant associated with bilateral cryptorchidism and severe male infertility: A case report

Urology Case Reports
Cryptorchidism is a common congenital anomaly linked to infertility and testicular cancer risk. Variants in the androgen receptor (AR) gene cause androgen insensitivity syndrome (AIS), ranging from complete (CAIS) to partial (PAIS) and mild (MAIS) forms.
Zohor Azher
doaj   +1 more source

Disorders of sex development: A 10 years experience with 73 cases from the Kashmir Valley

Indian Journal of Endocrinology and Metabolism, 2019
Purpose: To present the clinical data, investigative profile, and management of patients with disorders of sex development (DSD) from the endocrine unit of a tertiary care university hospital.
Raiz Ahmad Misgar, Moomin Hussain Bhat, Shariq Rashid Masoodi, Mir Iftikhar Bashir, Arshad Iqbal Wani, Aejaz Ahsan Baba, Gowhar Nazir Mufti   +6 more
doaj   +1 more source

Genetically Confirmed Osteogenesis Imperfecta (COL1A1) With Unexplained Ambiguous Genitalia in a 46,XY Child: An Index Case Report

Clinical Case Reports, Volume 14, Issue 7, July 2026.
A 6‐year‐old child with a rare dual diagnosis confirmed by genetic testing ‐ osteogenesis imperfecta (blue sclerae, disproportionate short stature) and concurrent 46,XY disorder of sex development (micropenis, hypospadias, impalpable gonads). ABSTRACT Osteogenesis imperfecta (OI) is a heritable disorder of type I collagen characterized by bone ...
Harshita Agarwal, Tathagata Jha, Mohammad Orooj Azmi, Soumita Sarkar, Vinay Suresh   +4 more
wiley   +1 more source

The Pathogenicity Analysis of a Hypogonadotropic Hypogonadism Patient With the Novel Variant in the Deep Intronic Region of the PROK2 Gene

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
We identified a deep intronic variant of PROK2 in one female patient with hypogonadotropic hypogonadism (HH) through whole‐genome sequencing (WGS). In vitro splicing assays and protein structure predictions indicated that this variant was likely pathogenic and might lead to this disease.
Jiali Chen, Yujin Ma, Liping Li, Huifang Peng, Hongwei Jiang   +4 more
wiley   +1 more source