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1-15 of 15
Keywords: Infertility
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Journal Articles
LIM Homeodomain (LIM-HD) Genes and Their Co-Regulators in Developing Reproductive System and Disorders of Sex Development
Available to PurchaseSubject Area:
Endocrinology
, Further Areas
, Genetics
, Pathology and Cell Biology
, Women's and Children's Health
Journal:
Sexual Development
Sex Dev (2022) 16 (2-3): 147–161.
Published Online: 10 September 2021
... advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Gonad Homeobox Infertility Ovary Puberty...
Journal Articles
45,X/46,X,i(Yp): Importance of Assessment and Support during Puberty and Adolescence
Available to PurchaseSubject Area:
Endocrinology
, Further Areas
, Genetics
, Pathology and Cell Biology
, Women's and Children's Health
Rossella Gaudino, Evelina Maines, Fabiana Guizzardi, Valeria Vezzoli, Csilla Krausz, Paolo Cavarzere, Giorgio Piacentini, Franco Antoniazzi, Marco Bonomi
Journal:
Sexual Development
Sex Dev (2019) 13 (3): 118–124.
Published Online: 03 July 2019
... in Kallmann syndrome/normosomic central hypogonadotropic hypogonadism showed no abnormality. The patient presented with a pubertal course suggestive of a delayed puberty with gynecomastia, reduced growth rate, and infertility that need testosterone treatment to induce the appearance of the secondary sex...
Journal Articles
A Novel Homozygous Missense FSHR Variant Associated with Hypergonadotropic Hypogonadism in Two Siblings from a Brazilian Family
Available to PurchaseSubject Area:
Endocrinology
, Further Areas
, Genetics
, Pathology and Cell Biology
, Women's and Children's Health
Monica M. França, Antonio M. Lerario, Mariana F.A. Funari, Mirian Y. Nishi, Amanda M. Narcizo, Maricilda P. de Mello, Gil Guerra-Junior, Andrea T. Maciel-Guerra, Berenice B. Mendonça
Journal:
Sexual Development
Sex Dev (2017) 11 (3): 137–142.
Published Online: 08 June 2017
... failure (POF) is a form of female infertility characterized by amenorrhea, hypoestrogenism, and elevated gonadotropin levels in women under the age of 40 years. Although several genes have been associated with POF, its causative genes remain to be identified. Here, we used whole-exome sequencing (WES...
Journal Articles
GnRHa Treatment of Cryptorchid Boys Affects Genes Involved in Hormonal Control of the HPG Axis and Fertility
Open AccessSubject Area:
Endocrinology
, Further Areas
, Genetics
, Pathology and Cell Biology
, Women's and Children's Health
Faruk Hadziselimovic, Katharina Gegenschatz-Schmid, Gilvydas Verkauskas, Philippe Demougin, Vytautas Bilius, Darius Dasevicius, Michael B. Stadler
Journal:
Sexual Development
Sex Dev (2017) 11 (3): 126–136.
Published Online: 16 May 2017
...Faruk Hadziselimovic; Katharina Gegenschatz-Schmid; Gilvydas Verkauskas; Philippe Demougin; Vytautas Bilius; Darius Dasevicius; Michael B. Stadler The gonadotropin-releasing hormone agonist (GnRHa; Buserelin) rescues fertility during adulthood in the majority of high infertility risk cryptorchid...
Journal Articles
The Persistent Müllerian Duct Syndrome: An Update Based Upon a Personal Experience of 157 Cases
Available to PurchaseSubject Area:
Endocrinology
, Further Areas
, Genetics
, Pathology and Cell Biology
, Women's and Children's Health
Journal:
Sexual Development
Sex Dev (2017) 11 (3): 109–125.
Published Online: 01 March 2017
... to in the content or advertisements. 2017 Infertility Malignant degeneration Mutation AMH AMHRII Cryptorchidism Male sex differentiation is driven by 2 distinct hormones [Jost, 1953], each produced by a separate cell compartment of the fetal testis. Testosterone produced by fetal Leydig cells...
Journal Articles
Subject Area:
Endocrinology
, Further Areas
, Genetics
, Pathology and Cell Biology
, Women's and Children's Health
Faruk Hadziselimovic, Katharina Gegenschatz-Schmid, Gilvydas Verkauskas, Maria J. Docampo-Garcia, Philippe Demougin, Vytautas Bilius, Dalius Malcius, Darius Dasevicius, Michael B. Stadtler
Journal:
Sexual Development
Sex Dev (2016) 10 (3): 136–146.
Published Online: 13 September 2016
... to determine a potential causative role of isolated congenital cryptorchidism in azoospermia and/or infertility in the context of our previously published GeneChip data. Cryptorchid patients, aged 7 months to 5 years and otherwise healthy, were enrolled in this prospective study. During surgery, testicular...
Journal Articles
Subject Area:
Endocrinology
, Further Areas
, Genetics
, Pathology and Cell Biology
, Women's and Children's Health
Journal:
Sexual Development
Sex Dev (2016) 9 (5): 269–278.
Published Online: 08 December 2015
... strongly supports the theory that impaired mini-puberty is responsible for azoospermia and infertility in cryptorchidism. Molecular biological observations favor LH deficiency, with EGR4 as a master regulatory gene in Leydig cell dysgenesis, as the reason for impaired mini-puberty, and recent evidence...
Journal Articles
Piwi-Pathway Alteration Induces LINE-1 Transposon Derepression and Infertility Development in Cryptorchidism
Open AccessSubject Area:
Endocrinology
, Further Areas
, Genetics
, Pathology and Cell Biology
, Women's and Children's Health
Journal:
Sexual Development
Sex Dev (2015) 9 (2): 98–104.
Published Online: 13 March 2015
..., 3 members of the DEAD-box RNA helicase family, and the GTSF1 gene were found to show significantly lower RNA signals in the high-infertility-risk group. In the immunohistochemical analysis, patients from the low-infertility-risk group showed coherently stronger staining for GTSF1 and PIWIL4 proteins...
Journal Articles
Gene Mutations Associated with Anomalies of Human Gonad Formation
Available to PurchaseSubject Area:
Endocrinology
, Further Areas
, Genetics
, Pathology and Cell Biology
, Women's and Children's Health
Journal:
Sexual Development
Sex Dev (2012) 7 (1-3): 126–146.
Published Online: 03 October 2012
... to isolated glandular hypospadias (table 1 ) [Lin and Achermann, 2008; Allali et al., 2011]. The link between NR5A1 and human female infertility came from the observation of familial cases with both 46,XY DSD and primary ovarian insufficiency (POI) [Lourenço et al., 2009]. POI is a common disorder...
Journal Articles
45,X Maleness: Clinical and Cytogenetic Features in Two Patients
Available to PurchaseSubject Area:
Endocrinology
, Further Areas
, Genetics
, Pathology and Cell Biology
, Women's and Children's Health
Journal:
Sexual Development
Sex Dev (2012) 5 (6): 281–286.
Published Online: 07 February 2012
...E. Dati; A. Valetto; V. Bertini; E. Chiocca; G.I. Baroncelli; R. Battini; S. Bertelloni 45,X maleness is a very rare disorder. We report on 2 new 45,X males aged 9 10/12 and 39 years, respectively. The boy presented for developmental delay, while the man was referred to us because of infertility...
Journal Articles
Disorders of Sexual Development in Wild and Captive Exotic Animals
Available to PurchaseSubject Area:
Endocrinology
, Further Areas
, Genetics
, Pathology and Cell Biology
, Women's and Children's Health
Journal:
Sexual Development
Sex Dev (2012) 6 (1-3): 84–95.
Published Online: 14 October 2011
.... Chromosome abnormality Endocrine disrupting chemical Exotic species Gonadal dysgenesis Intersex Infertility Wildlife Sexual development has been well studied in mammalian species and, as such, many of the determining factors are known compared to reptile, amphibian, fish, and bird species...
Journal Articles
Y-Autosome Translocation Interferes with Meiotic Sex Inactivation and Expression of Autosomal Genes: A Case Study in the Pig
Available to PurchaseSubject Area:
Endocrinology
, Further Areas
, Genetics
, Pathology and Cell Biology
, Women's and Children's Health
H. Barasc, N. Mary, R. Letron, A. Calgaro, A.M. Dudez, N. Bonnet, Y. Lahbib-Mansais, M. Yerle, A. Ducos, A. Pinton
Journal:
Sexual Development
Sex Dev (2012) 6 (1-3): 143–150.
Published Online: 13 September 2011
...H. Barasc; N. Mary; R. Letron; A. Calgaro; A.M. Dudez; N. Bonnet; Y. Lahbib-Mansais; M. Yerle; A. Ducos; A. Pinton Y-autosome translocations are rare in humans and pigs. In both species, these rearrangements can be responsible for meiotic arrest and subsequent infertility. Chromosome pairing...
Journal Articles
Klinefelter’s Syndrome: A Clinical and Therapeutical Update
Available to PurchaseSubject Area:
Endocrinology
, Further Areas
, Genetics
, Pathology and Cell Biology
, Women's and Children's Health
Journal:
Sexual Development
Sex Dev (2010) 4 (4-5): 249–258.
Published Online: 21 July 2010
...G. Forti; G. Corona; L. Vignozzi; C. Krausz; M. Maggi The prevalence of the Klinefelter’s syndrome, ranging between 1/500 and 1/1,000 in the general male population, rises up to 3–4% among infertile males and to 10–12% in azoospermic patients. Due to the paucity of symptoms, only 10% of Klinefelter...
Journal Articles
EGR4 Is a Master Gene Responsible for Fertility in Cryptorchidism
Available to PurchaseSubject Area:
Endocrinology
, Further Areas
, Genetics
, Pathology and Cell Biology
, Women's and Children's Health
Journal:
Sexual Development
Sex Dev (2009) 3 (5): 253–263.
Published Online: 14 October 2009
...F. Hadziselimovic; N.O. Hadziselimovic; P. Demougin; G. Krey; B. Hoecht; E.J. Oakeley The purpose of early medical or surgical treatment of boys with undescended testes is to prevent the development of infertility. However, early and successful surgery cannot prevent infertility in cryptorchid boys...
Journal Articles
Chromosome Abnormalities and Yq Microdeletions in Infertile Italian Couples Referred for Assisted Reproductive Technique
Available to PurchaseSubject Area:
Endocrinology
, Further Areas
, Genetics
, Pathology and Cell Biology
, Women's and Children's Health
Journal:
Sexual Development
Sex Dev (2008) 1 (6): 347–352.
Published Online: 18 January 2008
...E. Marchina; L. Imperadori; M. Speziani; U. Omodei; S. Tombesi; S. Barlati This study analyses the prevalence of karyotype aberrations and Yq microdeletions in infertile couples undergoing intracytoplasmic sperm injection (ICSI). Before undergoing ICSI, each partner of 470 infertile couples...