Results 41 to 50 of about 2,046,764 (189)

A Cilia–Centered Nicotinamide Adenine Dinucleotide (NAD+) Signaling Network Regulates Hypothalamic Lysosomal Homeostasis and Metabolic Aging

Aging Cell, Volume 25, Issue 11, November 2026.
Aging‐associated NAD+ depletion in hypothalamic neurons shortens primary cilia and disrupts CHMP4B trafficking to lysosomes during lysosomal stress, leading to impaired TRPML1–mediated Ca2+ signaling and lysosomal stress responses. Calorie restriction restores hypothalamic NAD+ levels, ciliary structure, and lysosomal homeostasis, thereby improving ...
Se Eun Park, Eun Roh, Jae Woo Park, Seong Jun Kim, So Yeon Jeong, Chae Beom Park, Hyo Sun Lim, Ji Soo Kim, Mun Gyeom Kim, Myeong Ju Kim, Young In Cho, Wontae Jeong, Gil Myoung Kang, Sang‐Yeob Kim, Se Hee Min, Min‐Seon Kim   +15 more
wiley   +1 more source

46XX pure gonadal dysgenesis with dysgerminoma along with leydig cells: a unique presentation [PDF]

, 2020
Authors report a unique case of 46XX gonadal dysgenesis, with dysgerminoma in one ovary and other streak ovary with hilar nests of leydig cells. It is exceptionally rare to find dysgerminoma in a dysgenetic gonad with no Y chromosome and so is the ...
Singh, Pratibha, Rao, Meenakshi, Yadav, Garima, Tak, Apoorva   +3 more
core   +1 more source

Casuística de ambiguidade genital em hospital público universitário

Residência Pediátrica, 2022
OBJECTIVE: Ambiguous genitalia is a disorder of sex development. Incidence has been estimated at approximately one in 4,500-5,500 live births. The investigation and diagnosis of ambiguous genitalia is a clinical emergency given the importance of ...
Camila Clemente Luz, Isabel Rey Madeira, Daniel Luis Schueftan Gilban, Ana Paula Neves Bordallo, Paulo Ferrez Collett Solberg, Clarice Borschiver de Medeiros, Fernanda Mussi Gazolla, Claudia Braga Monteiro, Ana Carolina dos Santos Carvalho, Renata Mota Vieira guerreiro   +9 more
doaj   +1 more source

FAMILIAL MIXED GONADAL DYSGENESIS [PDF]

Pediatric Research, 1975
Mixed gonadal dysgenesis is characterised by female ductal differenciation in spite of presence of testicular tissue. Two cases of familial mixed gonadal dysgenesis are reported. The first patient had a female phenotype and presented at 13 years undeveloped breast, primary amenorrhea and enlarged clitoris. She had normal female external genitalia and a
Ch Sultan, R Jean
openaire   +1 more source

Incidence of Gonadal and Extragonadal Germ Cell Tumours in Patients With Klinefelter Syndrome

Andrology, Volume 14, Issue 7, Page 2274-2279, October 2026.
ABSTRACT Background Klinefelter's syndrome (KS; 47, XXY) is associated with an altered risk profile for malignancies compared with non‐KS males. In particular, several reports have noted a striking association between KS and extragonadal germ cell tumours (EGCTs), especially in the mediastinum, whereas the risk of testicular germ cell tumours (TGCTs ...
Aksh Tailor, Oishee Bandyopadhyay, Nahian Ahmed, Kapishan Shanmugathasan, Alice Cotton, ChingHao Chen, Tet Yap   +6 more
wiley   +1 more source

Prophylactic gonadectomy in children with mixed gonadal dysgenesis – a nine-year-old girl [PDF]

, 2018
Gonadna disgeneza embrionalna je anomalija gonada. Može biti čista (Turnerov sindrom) ili miješana (mozaicizam). Miješani oblik s lozom stanica u kojoj se nalazi Y spolni kromosom, sklon je pojavi gonadoblastoma u displastičnim gonadama.
Bulić, Krešimir, Antabak, Anko, Bogović, Marko, Papeš, Dino, Blažević, Andrea   +4 more
core   +1 more source

Testicular Biopsies in Adolescent and Adult Andrological Patients: The EAA Clinical Guidelines

Andrology, Volume 14, Issue 7, Page 1906-1928, October 2026.
ABSTRACT Background Histological evaluation of testicular tissue is central to the assessment of infertile men, particularly those at an increased risk of testicular germ cell tumors (TGCT). Traditionally, testicular biopsies have been used primarily for diagnostic purposes, such as the detection of germ cell neoplasia in situ (GCNIS). With advances in
Lise Aksglaede, George Kanakis, Ewa Rajpert‐De Meyts, Davor Jezek, Ferran Algaba, Gert Dohle, Jolanta Slowikowska‐Hilczer, Sabine Kliesch, Hermann M. Behre, Csilla Krausz, Dimitrios G. Goulis, Niels Jørgensen   +11 more
wiley   +1 more source

MIXED GONADAL DYSGENESIS: A RAPORT OF TWO CASES [PDF]

, 1979
Two cases of mixed gonadal dysgenesis were herein reported. Case one was a 16-year-old, legally male patient and the other was a 11-year-old, also legally male patient. Sex chromosome analysis revealed mosaicism of 45XO/46XY in both cases.
斎藤, 泰, 近藤, 厚, 朝長, 優, 居原, 健, 石丸, 忠彦, 金武, 洋, 津田, 暢夫, 中野, 信吾   +7 more
core  

The spectrum of 45,X/46,XY mosaicism in Taiwanese children: The experience of a single center

Journal of the Formosan Medical Association, 2019
Background/Purpose: 45,X/46,XY mosaicism is a rare sex chromosome abnormality. Here, we present our experience in the management of 45,X/46,XY Taiwanese children. Patients and Methods: We enrolled 19 patients from January 1981 to September 2016.
Yen-Chun Huang, Cheng-Ting Lee, Mu-Zon Wu, Shih-Yao Liu, Yi-Ching Tung, Hong-Nerng Ho, Wen-Yu Tsai   +6 more
doaj   +1 more source

Jacobs Syndrome Presenting With Delayed Puberty and Central Hypogonadism: A Rare Case Report

Clinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT In some rare instances, patients with 47,XYY syndrome can be short in height, accompanied by hypogonadism without the characteristic tall stature. In cases where there is delayed puberty and unusual growth pattern, a complete endocrine work‐up, including GnRH and hCG stimulation tests, along with chromosome studies, is vital.
Muhammad Hassaan Javaid, Ayesha Ahmad, Amna Ahmad, Muhammad Ajmal Khamosh, Muhammad Hanzla   +4 more
wiley   +1 more source