Results 61 to 70 of about 1,226,810 (157)

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

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

Urethral reconstruction using amniotic membrane allograft in hereditary androgen insensitivity syndrome: a case series

, 2023
Partial androgen insensitivity syndrome is a rare X-linked disorder. While most cases are sporadic, familial cases are less frequent. The management of this syndrome follows a multidisciplinary approach involving hormone substitution, psychological ...
Kanas, Mahmoud, Safadi, Mhd Firas, Alrebdawi, Khaled, Mansour, Marah, Jrdy, Abd Alrahman, Faour, Sabah, Sires, Abdoul Majid, Wardeh, Jad Alhaq, Alsbekhan, Almoataz Ballah, Raya, Maria   +9 more
core   +1 more source

Complete androgen insensitivity syndrome: Dilemmas for further management after gonadectomy

Journal of Human Reproductive Sciences, 2019
Complete androgen insensitivity syndrome is a rare condition, wherein a genetic male is phenotypically female and is raised as a female. Treatement requires timely gonadectomy, need for long term hormonal replaceent therapy, psycological and genetic ...
Pratibha Singh, Meenakshi Gothwal, Garima Yadav, Kuldeep Singh   +3 more
doaj   +1 more source

Androgen insensitivity syndrome: a review

, 2023
PurposeAndrogen insensitivity syndrome (AIS) is a disorder characterized by peripheral androgen resistance due to androgen receptor mutations in subjects with 46 XY karyotype.
Lenzi, A., Paoli, D., Lombardo, F., Delli Paoli, E., Di Chiano, S., Pallotti, F.   +5 more
core   +1 more source

Müllerian Agenesis Presenting as Primary Amenorrhea in a 16‐Year‐Old Girl From a Low‐Resource Setting in Bangladesh: Psychological Impact and Multidisciplinary Management

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT Müllerian agenesis (MRKH syndrome) causes primary amenorrhea in phenotypically normal females. We report a 16‐year‐old girl with normal secondary sexual characteristics, a short blind vagina, absent uterus on ultrasonography, and a 46,XX karyotype.
Iftekhar Ahmed Sakib, Musarrat Sultana Shumi, Rozina Sultana, Ayesa Perveen, Nishad Tasnim, Shirazum Munira   +5 more
wiley   +1 more source

Comprehensive androgen-dependent transcriptome analysis in human genital tissue

BMC Genomics
Background Androgen signalling through the androgen receptor (AR) is crucial for male genital development. Disruptions in this pathway are associated with androgen insensitivity syndrome (AIS), which is typically caused by mutations in the AR gene ...
Radhika Sivaprasad, Kristian Händler, Almuth Caliebe, Malte Spielmann, Paul-Martin Holterhus, Nadine C. Hornig   +5 more
doaj   +1 more source

Phenotypic diversity in siblings with partial androgen insensitivity syndrome

, 1997
The androgen insensitivity syndrome is a heterogeneous disorder with a wide spec-trum of phenotypic abnormalities, rang-ing from complete female to ambiguous forms that more closely resemble males. The primary abnormality is a defective androgen receptor
Bevan, C. L., Gregory, John Welbourn, I A Hughes, B A J Evans, M N Patterson, Patterson, M. N., J W Gregory, C L Bevan, Hughes, I. A., Evans, Bronwen Alice James   +9 more
core   +1 more source

Surface Rendering of External Genitalia of a Fetus at the 32nd Week of Gestation Affected by Partial Androgen Insensitivity Syndrome

Case Reports in Obstetrics and Gynecology, 2013
Objectives. To demonstrate the feasibility of the prenatal diagnosis of partial androgen insensitivity syndrome by 3D-4D ultrasound. Methods. To report prenatal diagnosis of partial androgen insensitivity syndrome at 32nd week of gestation by 3D-4D ...
Vincenzo Mazza, Emma Bertucci, Silvia Latella, Carlotta Cani, Pierluca Ceccarelli, Lorenzo Iughetti, Fulvia Baldinotti, Antonio Percesepe   +7 more
doaj   +1 more source

From Earth to orbit: How to preserve muscle health in space and bed rest

Experimental Physiology, Volume 111, Issue 9, Page 3906-3907, 1 September 2026.
Antonios Matsakas, Colleen Deane
wiley   +1 more source