Results 71 to 80 of about 2,744 (169)

Chronic Obstructive Uropathy Complicating Complete Androgen Insensitivity Syndrome: A Case Report

Case Reports in Endocrinology, Volume 2026, Issue 1, 2026.
Complete androgen insensitivity syndrome (CAIS) is a rare X‐linked difference of sex development (DSD) caused by pathogenic variants in the androgen receptor (AR) gene, leading to complete androgen resistance. Diagnosis is often delayed in low‐resource settings due to a low index of suspicion and lack of access to diagnostic testing.
Brook Alemayehu Tesfaye, Getamesay Atnafu Adisu, Abeselom Lemma Gebreamlak, Paulos Efrem, Kibret Enyew Belay, Kalyani Sen   +5 more
wiley   +1 more source

Hyperoestrogenisme bij een vrouwelijke chihuahuapup [PDF]

, 2012
A female intact Chihuahua pup was presented at the age of four months with complaints of vulvar swelling and precocious sexual behaviour. Both complaints started to develop at the age of 9-10 weeks.
De Loor, Jorien, Van Soom, Ann
core   +1 more source

Robotic removal of Müllerian duct remnants in pediatric patients: our experience and a review of the literature. [PDF]

, 2018
Persistent Müllerian duct syndrome is a disorder of sexual development, which features a failure of involution of Müllerian structures. An enlarged prostatic utricle is a kind of Müllerian duct remnant (MDR) with a tubular shaped structure communicating ...
Giovanni Ruggeri, Hubert Lardy, Mario Lima, Michela Maffi, Michele Libri, Niel Di Salvo, Tommaso Gargano   +6 more
core   +3 more sources

Paraneoplastic Pulmonary Embolism Revealing Metastatic Uterine Carcinosarcoma

Case Reports in Oncological Medicine, Volume 2026, Issue 1, 2026.
Background Venous thromboembolism (VTE) can be a paraneoplastic phenomenon and may occasionally be the first manifestation of an occult malignancy. We present the case of an elderly woman whose “unprovoked” pulmonary embolism (PE) led to the diagnosis of metastatic uterine carcinosarcoma, an aggressive endometrial cancer subtype.
Elias Tayar, Amira Bitar, Maroun Ibrahim, Jose I. Mayordomo   +3 more
wiley   +1 more source

Intestinal Atresia in PPP1R12A ‐Related Urogenital and Brain Malformation Syndrome

American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT PPP1R12A‐related urogenital and brain malformation syndrome (UBMS) is a newly described disorder characterized by congenital anomalies primarily involving the urogenital system and the brain. We describe a preterm female neonate with multiple congenital anomalies, including type IIIb jejunal atresia, incomplete intestinal rotation, imperforate
Adriana Gomes, Sanjana Karamcheti, Álvaro Martín Rodriguez, Anna‐Kaisa Niemi, Lynne M. Bird   +4 more
wiley   +1 more source

Persistent Mullerian Duct Syndrome: a rare entity with a rare presentation in need of multidisciplinary management

International Brazilian Journal of Urology
Main findings: A typical male looking adolescent with a legal female gender assignment presented with haematuria. Investigations led to the diagnosis of Persistent Mullerian Duct Syndrome.
Lin Da Aw, Murizah M. Zain, Sandro C. Esteves, Peter Humaidan   +3 more
doaj   +1 more source

Androgen and estrogen receptor expression in the developing human penis and clitoris. [PDF]

, 2020
To better understand how the human fetal penis and clitoris grows and remodels, we undertook an investigation to define active areas of cellular proliferation and programmed cell death spatially and temporally during development of human fetal external ...
Baskin, Laurence, Cao, Mei, Cunha, Gerald R, Isaacson, Dylan, Li, Yi, Overland, Maya, Sinclair, Adriane   +6 more
core  

ATRX: From Chromatin Remodeling to Disease

genesis, Volume 63, Issue 6, December 2025.
ABSTRACT Chromatin remodeling proteins are evolutionarily conserved factors involved in a wide range of biological processes. In this review, we describe ATRX, a chromatin remodeling protein belonging to the SWI/SNF2 family. Its association with different protein complexes, and its roles in embryonic development, sexual differentiation, as well as ...
Mauro Magaña‐Acosta, Viviana Valadez‐Graham   +1 more
wiley   +1 more source

Germ cell and other tumors in individuals with differences in sex development

CA: A Cancer Journal for Clinicians, Volume 75, Issue 6, Page 587-601, November/December 2025.
Abstract Approximately one in 3500 to one in 5100 live‐born infants have atypical external genital development, known as differences in sex development (DSD). In 2005, an expert consensus conference thoroughly reviewed aspects of health care for individuals with DSD.
Selma Feldman Witchel, Miguel Reyes‐Múgica   +1 more
wiley   +1 more source

Intersex and Families: Supporting Family Members With Intersex Variations [PDF]

, 2017
People with intersex variations have congenital atypical sex characteristics (chromosomal, hormonal, and/or anatomical) and receive protection against discrimination in only three countries globally; these include Australia, where the case study on which
Jones, Tiffany
core   +1 more source