Results 71 to 80 of about 12,853 (226)

The first Australian evidence‐based guidelines on male infertility

Medical Journal of Australia, Volume 223, Issue 11, Page 653-663, December 2025.
Abstract Introduction Infertility affects about one in six couples and a male factor may contribute to 50% of cases. Until recently, no Australian‐based clinical guidelines for the management of male infertility had been published. A panel of experts was assembled to formulate the first Australian evidence‐based guidelines on male infertility.
Darren J Katz, Liza O’Donnell, Robert I McLachlan, Tim J Moss, Clare V Boothroyd, Veena Jayadev, Sarah R Catford   +6 more
wiley   +1 more source

The XY female and SWYER syndrome

Urology Case Reports, 2019
Abtsract: SWYER syndrome or pure gonadal dysgenesis is a disease in which individuals with a female phenotype, with female external genital organs, have a 46 XY karyotype and streak gonads that ought to be removed given their high malignization potential.
Karine F. Meyer, Luiz G. Freitas Filho, Karina I. Silva, Pedro A. Trauzcinsky, Cristina Reuter, Maria Beatriz M. Souza   +5 more
doaj   +1 more source

Perspectives on testicular sex cord-stromal tumors and those composed of both germ cells and sex cord-stromal derivatives with a comparison to corresponding ovarian neoplasms [PDF]

, 2017
Sex cord-stromal tumors (SCSTs) are the second most frequent category of testicular neoplasms, accounting for approximately 2–5% of cases. Both genetic and epigenetic factors account for the differences in frequency and histologic composition between ...
Cheng, Liang, Lyu, Bingjian, Roth, Lawrence M.   +2 more
core   +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

Gonadal hybrid dysgenesis in Drosophila sturtevanti (Diptera, Drosophilidae)

Iheringia: Série Zoologia, 2002
The occurrence of hybrid dysgenesis was investigated in Drosophila sturtevanti Duda, 1927 using diagnostic crosses similar to those used for induction of dysgenics traits in D. melanogaster.
Luciane M. de Almeida, Claudia M. A. Carareto   +1 more
doaj   +1 more source

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

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

Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals [PDF]

, 2016
Steroidogenic factor 1 (NR5A1, SF-1, Ad4BP) is a transcriptional regulator of genes involved in adrenal and gonadal development and function. Mutations in NR5A1 have been among the most frequently identified genetic causes of gonadal development ...
Achermann, JC, Correa, RV, da Silva, TE, Domenice, S, Ferraz-de-Souza, B, Ferreira, FM, Frade Costa, EM, Gomes, NL, Lerario, AM, Lin, L, Machado, AZ, Mendonca, BB, Montenegro, LR, Narciso, A, Nishi, MY, Silva, RB   +15 more
core  

Familial XY gonadal dysgenesis. [PDF]

Journal of Medical Genetics, 1970
Gonadal dysgenesis is a condition characterized by streak gonads in subjects who present the phenotypic appearance of females. In pure gonadal dysgenesis, unlike Turner's syndrome, no associated somatic anomalies are found; the adult is of normal or above average stature and may have eunuchoidal proportions (Sohval, 1965).
J, Chemke, R, Carmichael, J M, Stewart, R H, Geer, A, Robinson   +4 more
openaire   +2 more sources

Clinical and Molecular Characterization of Xia–Gibbs Syndrome: Expanding the Phenotypic Spectrum in a Brazilian Cohort

Clinical Genetics, Volume 108, Issue 6, Page 654-663, December 2025.
We present a clinical and molecular characterization of 16 Brazilian individuals with Xia–Gibbs syndrome, identifying 12 novel AHDC1 variants and four phenotypes not previously associated. Our findings support existing genotype–phenotype associations and suggest a new relation, expanding the known phenotypic and genetic spectrum of the syndrome ...
Maísa Ganz Sanchez Sennes, Laura Machado Lara Carvalho, Matheus Augusto Araújo Castro, Giovana Manilli Toccoli, Sofia de Oliveira Farias, Davi Mendes Campo Fialho, Eny Maria Goloni Bertollo, Erika Cristina Pavarino, Larissa Sampaio de Athayde, Cecilia Barbosa Buck, Maria Betânia Pereira Toralles, Maria Isabel Melaragno, Mariluce Riegel‐Giugliani, Gustavo Marquezani Spolador, Paulo Alberto Otto, Caroline Brandão Piai, Fernando Kok, Ceres Schmitz Cechella, Carla Rosenberg, Juan Clinton Llerena, Débora Romeo Bertola, Salmo Raskin, Chong Ae Kim, Ana Cristina Victorino Krepischi   +23 more
wiley   +1 more source