Results 51 to 60 of about 43,260 (208)

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

Successful triplet pregnancy in an African with pure gonadal dysgenesis: A plus for assisted reproduction

Asian Pacific Journal of Reproduction, 2015
Gonadal dysgenesis represents a congenital developmental disorder of the reproductive system, with its main gynaecologic manifestations being amenorrhea and infertility. We present a unique case of pure gonadal dysgenesis in an ‘about to be’ married lady
M Aziken, J Osaikhuwuomwan, A Osemwenkha, O Iribhogbe, A Orhue   +4 more
doaj   +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

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

Gonadal surgery in gonadal dysgenesis. clinical case and literature review. [PDF]

, 2022
Disorders of sexual development are conditions in which sexual development is impaired. The field of disorders of sexual development is constantly evolving, however, common approach is lacking.
Trainavičius, Ignas,
core  

Gonadal dysgenesis and hermaphroditism

, 2020
This thesis has developed from a study of a series of patients with a gonadal dysgenesis. Shortly after the inception of the study, Pelani and his co-workers (1954) published a report on the nuclear chromatin pattern in three cases of the syndrome. Their
Hoffenberg, Raymond
core   +1 more source

A rare case of 46,XX gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome

Journal of Human Reproductive Sciences, 2016
46,XX gonadal dysgenesis is a rare genetically heterogeneous disorder characterized by underdeveloped ovaries with consequent, impuberism, primary amenorrhea, and hypergonadotropic hypogonadism. Mullerian agenesis or Mayer-Rokitansky-Kuster-Hauser (MRKH)
Sriharibabu Manne, C H Veeraabhinav, Mounica Jetti, Yalamanchali Himabindu, Kiranmai Donthu, Mutyalarayudu Badireddy   +5 more
doaj   +1 more source

A Likely Diagnosis of Familial Partial Androgen Insensitivity Syndrome in Three 46, XY Siblings With Ambiguous Genitalia: A Case Series

Clinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT Familial partial androgen insensitivity syndrome is a rare cause of 46, XY disorder of sex development. It includes marked phenotypic variability, even among siblings. Persistent undervirilization despite normal androgen levels should prompt early multidisciplinary evaluation and counseling, especially where genetic testing is limited.
Tayyeb Ali, Muhammad Hassaan Javaid, Sibgha Fawad Memon, Zauha Fawad Memon, Munazza Iqbal, Sadia Afridi, Abdul Rahim Soroush, Adnan Iqbal Khan, Naseer Ahmad, Nayab Ayub Afridi, Zuhaib Ali   +10 more
wiley   +1 more source

Gonadal Dysgenesis 46, XX Associated with Mayer-Rokitansky-Kuster-Hauser Syndrome: One Case Report

Obstetrics and Gynecology International, 2010
Introduction. The association of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome is very rare and appears to be coincidental, independent of chromosomal anomalies. Case Report.
N. Bousfiha, S. Errarhay, H. Saadi, K. Ouldim, C. Bouchikhi, A. Banani   +5 more
doaj   +1 more source

A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation. [PDF]

PLoS ONE, 2012
Patients with Disorders of Sex Development (DSD), especially those with gonadal dysgenesis and hypovirilization are at risk of developing malignant type II germ cell tumors/cancer (GCC) (seminoma/dysgerminoma and nonseminoma), with either carcinoma in ...
Remko Hersmus, Yvonne G van der Zwan, Hans Stoop, Pascal Bernard, Rajini Sreenivasan, J Wolter Oosterhuis, Hennie T Brüggenwirth, Suzan de Boer, Stefan White, Katja P Wolffenbuttel, Marielle Alders, Kenneth McElreavy, Stenvert L S Drop, Vincent R Harley, Leendert H J Looijenga   +14 more
doaj   +1 more source