Results 51 to 60 of about 12,853 (226)
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 +6 more
doaj +1 more source
Functional study of a novel missense single-nucleotide variant of NUP107 in two daughters of Mexican origin with premature ovarian insufficiency. [PDF]
, 2018 BackgroundHypergonadotropic hypogonadism (HH) is a genetically heterogeneous disorder that usually presents with amenorrhea, atrophic ovaries, and low estrogen. Most cases of HH are idiopathic and nonsyndromic.
Diao, Feiyang +6 more
core +2 more sources
Advent of NK3R Antagonists for the Treatment of Menopausal Hot Flushes: A Narrative Review
BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.ABSTRACT The menopause transition is marked by symptoms predominantly attributed to declining oestrogen levels. Approximately 80% of women experience associated symptoms, and 25% experience severe symptoms. The commonest are vasomotor symptoms (VMS), collectively referring to hot flushes and/or night sweats.
Aaran H. Patel +5 more
wiley +1 more source
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 +3 more
doaj +1 more source
Andrology, EarlyView.Abstract Background Poor semen quality is a well‐known feature in patients with testicular germ cell tumours (GCTs) at the time of diagnosis but the underlying biological reasons are incompletely understood. Objectives This study aimed to identify GCT‐specific clinical factors that are involved with poor semen quality in GCT patients.
Klaus‐Peter Dieckmann +9 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 +10 more
doaj +1 more source
Cryptorchidism: Novel genetic insights into CCDC149 mutations
Andrology, EarlyView.Abstract Background Cryptorchidism, characterized by the failure of one or both testes to descend into the scrotum, is a common congenital condition that can lead to infertility and increased risk of testicular cancer. CCDC149, a coiled‐coil domain‐containing protein, has been implicated in various developmental processes, but its role in the male ...
Shengrong Du +8 more
wiley +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 +13 more
doaj +1 more source
Sperm Telomere Interactions Are Impaired in Testicular Cancer Before and After Adjuvant Therapy
Andrology, EarlyView.ABSTRACT Background No study has yet explored telomere length or interaction in sperm nuclei of testicular cancer (TC) patients exposed to chemotherapy or radiotherapy. However, sperm telomere dynamics have emerged as a potential marker in male infertility.
Benoit Berby +10 more
wiley +1 more source
A 45,X/46,XY Male with Orchidopexy Diagnosed with Mixed Germ Cell Tumor After 21-year Follow-up
Urology Case Reports, 2017 A case of a 45,X/46,XY boy with gonadal dysgenesis is presented. The patient showed hypospadias and right undescended testis. He underwent underwent repair surgery for hypospadias, right orchidopexy, and bilateral testicular biopsy.
Masashi Kubota +12 more
doaj +1 more source