Results 21 to 30 of about 5,346 (170)

Achondroplasia Associated with Gonadal Dysgenesis

Journal of International Medical Research, 2008
A 45-year-old woman with short stature and primary amenorrhoea was admitted during a health-screening programme. Physical examination revealed a shortness of proximal legs and arms, short stature and other clinical properties of achondroplasia. Secondary sexual characteristics assessment showed axillary hair stage 5, breast stage 4 and pubic hair stage
C, Gokce, M E, Atabek, E M, Atabek, L, Kaynar, E, Torun, S, Kurtoglu, F, Bayram   +6 more
openaire   +3 more sources

Swyer syndrome: The gender swayer?

Alexandria Journal of Medicine, 2017
46XY complete gonadal dysgenesis (SWYER SYNDROME) is a rare type of Disorder of Sex Development. Herein we report a 15 years-old child, reared as female, presented with complaints of primary amenorrhoea, without short stature or Turner’s stigmata ...
Jaideep Khare, Prasun Deb, Prachi Srivastava, Babul H. Reddy   +3 more
doaj   +1 more source

Mixed gonadal dysgenesis in 45,X Turner syndrome with gene [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2015
Turner syndrome is the most common chromosomal disorder in girls. Various phenotypic features show depending upon karyotype from normal female through ambiguous genitalia to male.
Jae Yeop Jung, Sohyoung Yang, Eun-Hwan Jeong, Ho-Chang Lee, Yong-Moon Lee, Heon-Seok Han, Kyung Hee Yi   +6 more
doaj   +1 more source

Paediatric development of radiopharmaceutical imaging agents and radioligand therapeutics

British Journal of Clinical Pharmacology, EarlyView.
Abstract This review focuses on the development of radiopharmaceutical imaging agents and radioligand therapeutics for paediatric use. Nuclear medicine plays an important role in the diagnosis and treatment of various childhood conditions, including cancers, infections and brain disorders.
Justin L. Hay, Amandine Manon, Hunter Stephens, S. Y. Amy Cheung, Bart de Keizer, Erik T. te Beek   +5 more
wiley   +1 more source

CRISPR/Cas9-mediated simultaneous knockout of Dmrt1 and Dmrt3 does not recapitulate the 46,XY gonadal dysgenesis observed in 9p24.3 deletion patients

Biochemistry and Biophysics Reports, 2017
DM domain transcription factors play important roles in sexual development in a wide variety of species from invertebrate to humans. Among seven mammalian family members of DM domain transcription factors, DMRT1 has been studied in mouse and human for ...
Masafumi Inui, Moe Tamano, Tomoko Kato, Shuji Takada   +3 more
doaj   +1 more source

Nucleoporin107 mediates female sexual differentiation via Dsx

eLife, 2022
We recently identified a missense mutation in Nucleoporin107 (Nup107; D447N) underlying XX-ovarian-dysgenesis, a rare disorder characterized by underdeveloped and dysfunctional ovaries.
Tikva Shore, Tgst Levi, Rachel Kalifa, Amatzia Dreifuss, Dina Rekler, Ariella Weinberg-Shukron, Yuval Nevo, Tzofia Bialistoky, Victoria Moyal, Merav Yaffa Gold, Shira Leebhoff, David Zangen, Girish Deshpande, Offer Gerlitz   +13 more
doaj   +1 more source

Role of SoxE transcription factors in development and disease

Developmental Dynamics, EarlyView.
Abstract Sox8, Sox9, and Sox10 arose by multiple rounds of genome duplications from a single SoxE gene in ancestral vertebrates. In this review, we will briefly discuss the molecular structure and function of SoxE transcription factors and their evolutionary origin. We will then discuss their expression, function, and developmental disorders.
Merin Lawrence, Gerhard Schlosser
wiley   +1 more source

#332 : A Rare Case Report of Mixed Gonadal Dysgenesis with MOS 46, XY, 47,XY+21, 45,X Karyotype

Fertility & Reproduction, 2023
Background and Aims: Mixed gonadal dysgenesis is a condition of unusual and asymmetrical gonadal development leading to an unassigned sex differentiation. A number of differences have been reported in the karyotype, most commonly a mosaicism 45, X/46, XY.
Meycha Dafhonsa, Uki Retno Budihastuti, Eriana Melinawati   +2 more
doaj   +1 more source

Geographical Pattern of Testicular Cancer Points to Maternal Exposures Behind Increasing Incidence

International Journal of Cancer, EarlyView.
ABSTRACT Evidence suggests that testicular cancer (TC) originates from germ cell neoplasia in situ arising during fetal development, implying that prenatal environmental exposures may influence disease risk. We investigated whether maternal place of residence during pregnancy is associated with regional variation in TC incidence.
Antti Kaipia, Karri Seppä, Elli Hirvonen, Eetu Mäkinen, Nea Malila, Janne Pitkäniemi, Jorma Toppari, Peter Boström, Heikki Seikkula   +8 more
wiley   +1 more source

A conserved function of Human DLC3 and Drosophila Cv-c in testis development

eLife, 2022
The identification of genes affecting gonad development is essential to understand the mechanisms causing Variations/Differences in Sex Development (DSD). Recently, a DLC3 mutation was associated with male gonadal dysgenesis in 46,XY DSD patients.
Sol Sotillos, Isabel von der Decken, Ivan Domenech Mercadé, Sriraksha Srinivasan, Dmytro Sirokha, Ludmila Livshits, Stefano Vanni, Serge Nef, Anna Biason-Lauber, Daniel Rodríguez Gutiérrez, James Castelli-Gair Hombría   +10 more
doaj   +1 more source