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Veterinary Medicine and Science, Volume 12, Issue 5, September 2026.This study illustrates trimester‐specific testicular descent and development in Hamdani crossbred sheep foetuses. Macroscopic, morphometric, histological and SEM findings show progressive migration toward the scrotum, significant testicular growth, seminiferous cord organization, interstitial maturation and cellular differentiation, establishing a ...
Barış Can Güzel +5 more
wiley +1 more source
A Rare Cause of Male Infertility: Mixed Gonadal Dysgenesis
Infertility is a significant health problem that affects many couples in the reproductive age range globally. While only the male factor is responsible for 20%-30% of cases of infertility, contributing to a further 20%.
Barış Paksoy +2 more
core +1 more source
Certain Aspects of Osteoporosis in Gonadal Dysgenesis
, 2016 Osteoporosis — a metabolic disease of the skeletal system associated with a reduced bone density and deterioration of bone tissue microarchitecture.
L.Yu. Khlunovska +4 more
core +1 more source
, 2020 Background: Disorders of sex development are congenital conditions with atypical chromosomal, gonadal, or anatomical sex development. Gonadal dysgenesis in patients containing a Y chromosome have a high risk of developing germ cell tumors with potential ...
Andrade, Liliana A. L. A. +2 more
core +1 more source
Sexual differentiation disorder - Gonadal dysgenesis
Gonadna disgeneza je specifičan podskup poremećaja spolnog razvoja, obuhvaćajući različite genetičke i fenotipske varijacije. Fokusirajući se na potpunu i parcijalnu gonadnu disgenezu, ovaj rad analizira njihove kliničke prezentacije, genetičke uzroke i ...
Golem, Ana
core +2 more sources
Balanced Reciprocal Translocation t(X;1) in a Girl with Tall Stature and Primary Amenorrhea
Iranian Journal of Medical Sciences, 2017 Chromosomal translocations constitute one of the most important, yet uncommon, causes of primary amenorrhea and gonadal dysgenesis. Although X-autosome translocations are frequently associated with streak gonads and clinical features of the Turner ...
Zahra Razavi, Hossein Emad Momtaz
doaj
Expanding the Phenotype of TUFM ‐Related Combined Oxidative Phosphorylation Deficiency 4
American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1884-1889, August 2026.ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier +2 more
wiley +1 more source
Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions
Prenatal Diagnosis, Volume 46, Issue 9, Page 1374-1384, August 2026.ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo +4 more
wiley +1 more source
Mixed gonadal dysgenesis with normal karyotype : A rare case report
Indian Journal of Pathology and Microbiology, 2010 Mixed gonadal dysgenesis (MGD) presents as a unilateral testis, usually intraabdominal, a streak gonad on contralateral side, and persistent mullerian structures.
Anand Ajay +4 more
doaj
Brazilian Journal of Medical and Biological Research, 2005 The WT1 transcription factor regulates SRY expression during the initial steps of the sex determination process in humans, activating a gene cascade leading to testis differentiation.
E.B. Tagliarini +6 more
doaj +1 more source