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Journals Sexual Development : Genetics,...

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation

https://read.qxmd.com/read/38447543/mutations-in-stard8-dlc3-may-cause-46-xy-gonadal-dysgenesis
#1
JOURNAL ARTICLE
Dmytro Sirokha, Alexey Rayevsky, Olexandra Gorodna, Vitalii Kalynovskyi, Nataliya Zelinska, Oksana Samson, Krystyna Kwiatkowska, Serge Nef, Jadwiga Jaruzelska, Kamila Kusz-Zamelczyk, Ludmila Livshits
INTRODUCTION: 46,XY gonadal dysgenesis is a condition that is characterised by undeveloped testes in individuals with a male karyotype. Mutations in many genes that underlie this condition have been identified; however, there are still a considerable number of patients with an unknown genetic background. Recently, a mutation in the STARD8 X-linked gene in two sisters with 46,XY gonadal dysgenesis has been reported. It was localised within the START domain, whose homologue in Drosophila is responsible for maintaining testis integrity during its development...
March 6, 2024: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://read.qxmd.com/read/38281483/rare-case-of-turner-syndrome-patient-with-metastatic-dysgerminoma-and-no-y-chromosomal-material-with-pathogenic-variants-found-in-kit-and-mtor
#2
Camilla Mains Balle, Christine Gaasdal Kassentoft, Jolinda Iris van Heusden, Michael Knudsen, Line Raaby, Claus Højbjerg Gravholt
INTRODUCTION: The presence of Y-chromosomal material in females with Turner syndrome (TS) is a well-established risk factor for developing gonadoblastoma and malignant transformations hereof. However, these events are rarely seen in TS patients with no Y-chromosomal material. Thus, it is the current understanding that parts of the Y-chromosome are essential for malignant transformation of gonadoblastoma in the dysgenetic gonad. METHODS: We report a case of a TS female with an apparent 46,X,idic(Xq) karyotype, who was diagnosed with a metastatic dysgerminoma...
January 27, 2024: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://read.qxmd.com/read/37717579/two-novel-heterozygous-variants-in-reca2-domain-of-the-dhx37-cause-46-xy-gonadal-dysgenesis-and-testicular-regression-syndrome
#3
Hao Yang, Xiuqi Ma, Hongjuan Tian, Jinna Yuan, Dehua Wu, Guanping Dong, Qian Liu, Junfen Fu
INTRODUCTION: The pathogenic variants in DEAH-box RNA helicase DHX37 are one of the major causes of 46,XY gonadal dysgenesis and TRS. To date, only 13 different missense variants have been reported. We report two additional cases with different clinical presentation carrying two novel variants in the DHX37 gene. CASE PRESENTATION AND RESULTS: Case 1 (4.4-year-old boy), presented with significant micropenis and cryptorchidism and was diagnosed as TRS. Case 2 (13...
September 15, 2023: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://read.qxmd.com/read/37699373/lessons-learned-from-17-years-of-multidisciplinary-care-for-dsd-patients-at-a-single-indonesian-center
#4
JOURNAL ARTICLE
Sultana Mh Faradz, Nurin Listyasari, Agustini Utari, Mahayu Dewi Ariani, Achmad Zulfa Juniarto, Ardy Santosa, Annastasia Ediati, Tuula K Rinne, Dineke Westra, Hedi Claahsen-van der Grinten, Frank H de Jong, Stenvert Ls Drop, Katie Ayers, Andrew Sinclair
BACKGROUND: Our Multidisciplinary Team (MDT) is a large specialized team based in Semarang, Indonesia that cares for a wide variety of pediatric and adult individuals with Differences of Sex Development (DSD) from across Indonesia. Here we describe our work over the last 17 years. METHODS: We analyzed phenotypic, hormonal and genetic findings from clinical records for all patients referred to our MDT during the period 2004 to 2020. RESULTS: Among 1184 DSD patients, 10% had sex chromosome DSD, 67% had 46,XY DSD and 23% had 46,XX DSD...
September 12, 2023: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://read.qxmd.com/read/37611547/the-effects-of-pft-%C3%A2%C2%B5-on-spermatogonial-stem-cell-viability-and-pluripotency
#5
JOURNAL ARTICLE
Sara Moghadasi, Ehsan Razeghian, Mehdi Shamsara, Farid Heidari
INTRODUCTION: Spermatogonial stem cells (SSCs) offer remarkable competencies for animal reproduction and overcoming human disease as a result of their differentiation capability. We evaluated the effect of small molecule pifithrin-mu (PFT-µ) as a well-known inhibitor of P53 on SSC biological processes such as viability, apoptosis, and gene expression pattern. METHODS: The SSCs were isolated from the testes of adult NMRI mice and then cultured in DMEM / F12 medium containing 10% FBS...
August 23, 2023: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://read.qxmd.com/read/37598664/the-aging-ovary-and-the-tales-learned-since-fetal-development
#6
REVIEW
Jesus Lopez, Gabe Hohensee, Jing Liang, Meirav Sela, Joshua Johnson, Amanda N Kallen
Background While the term "aging" implies a process typically associated with later life, the consequences of ovarian aging are evident by the time a women reaches her forties, and sometimes earlier. This is due to a gradual decline in the quantity and quality of oocytes which occurs over a woman's repreoductive lifespan. Indeed, the reproductive potential of the ovary is established even before birth, as the proper formation and assembly of the ovarian germ cell population during fetal life determines the lifetime endowment of oocytes and follicles...
August 18, 2023: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://read.qxmd.com/read/37232019/oogenesis-in-c-elegans
#7
REVIEW
Gregory M Davis, Hayleigh Hipwell, Peter R Boag
The nematode, Caenorhabiditis elegans has proven itself as a valuable model for investigating metazoan biology. Key features including a transparent body, an invariant cell lineage, ease of genetic manipulation, coupled with a high level of genetic conservation with higher eukaryotes make C. elegans a desierable model organism. Although used to elucidate many aspects of somatic biology, a distinct advantage of C. elegans is its well annotated germline which allows all aspects of oogenesis to be observed in real-time within a single animal...
May 11, 2023: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://read.qxmd.com/read/36917969/pubertal-and-gonadal-outcomes-in-46-xy-individuals-with-partial-androgen-insensitivity-syndrome-raised-as-girls
#8
JOURNAL ARTICLE
Guilherme Guaragna-Filho, Gil Guerra-Junior, Rieko Tadokoro-Cuccaro, Ieuan A Hughes, Beatriz A Barros, Olaf Hiort, Antonio Balsamo, Tulay Guran, Paul M Holterhus, Sabine Hannema, Sukran Poyrazoglu, Feyza Darendeliler, Jillian Bryce, S Faisal Ahmed, Charmian A Quigley
INTRODUCTION: Although it was common in the 1970s-1990s to assign female gender of rearing to 46,XY infants with limited virilization of varying etiologies, including those with partial androgen insensitivity syndrome (PAIS), long-term data on outcomes for these individuals are sparse. Therefore, our goal was to use the power of an international registry to evaluate clinical features, surgical management, and pubertal data in patients with a molecularly confirmed diagnosis of PAIS who were born before 2008 and were raised as girls...
March 14, 2023: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://read.qxmd.com/read/36796343/phenotypic-variation-in-46-xx-disorders-of-sex-development-due-to-the-4th-zinc-finger-domain-variant-of-wt1-a-familial-case-report
#9
Shizuka Kirino, Analia Yogi, Eriko Adachi, Hisae Nakatani, Maki Gau, Ryosei Iemura, Haruki Yamano, Toru Kanamori, Takayasu Mori, Eisei Sohara, Shinichi Uchida, Kentaro Okamoto, Tomohiro Udagawa, Kei Takasawa, Tomohiro Morio, Kenichi Kashimada
INTRODUCTION: The variants in the zinc finger (ZF) domains 1-3 in WT1 are one of the major causes of 46,XY disorders of sex development. Recently, the variants in fourth ZF (ZF4 variants) were reported to cause 46,XX DSD. However, all the nine patients reported were de novo, and no familial cases were identified. CASE PRESENTATION AND RESULTS: The proband (16yrs social female), had 46,XX karyotype with dysplastic testes and moderate virilization in genitalia. A ZF4 variant, p...
February 16, 2023: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://read.qxmd.com/read/36796340/avian-sex-determination-a-chicken-egg-conundrum
#10
REVIEW
Michael Clinton, Debiao Zhao
Background Primary sex-determination is the developmental process that results in the sex determination of the gonads. Vertebrate sex determination is generally considered to follow the model based on the mammalian system, where a sex-specific master regulatory gene activates one of the two different gene networks that underlie testis and ovary differentiation. Summary It is now known that, while many of the molecular components of these pathways are conserved across different vertebrates, a wide variety of different trigger factors are utilised to initiate primary sex determination...
February 16, 2023: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://read.qxmd.com/read/36758533/whole-exome-sequencing-indicated-new-candidate-genes-associated-with-unilateral-cryptorchidism-in-pigs
#11
JOURNAL ARTICLE
Arthur Nery da Silva, Adriana Mércia Guaratini Ibelli, Igor Ricardo Savoldi, Maurício Egídio Cantão, Eraldo Lourenso Zanella, Mariana Groke Marques, Marcos Vinicius Gualberto Barbosa da Silva, Jane Oliveira de Peixoto, Mônica Corrêa Ledur, Jader Silva Lopes, José Eduardo Vargas, Ricardo Zanella
INTRODUCTION: Cryptorchidism is a hereditary anomaly characterized by the incomplete descent of one or both testicles to the scrotum. One of the challenges of this anomaly is that the retained testicle maintains its endocrine function. As a consequence, cryptorchid animals produce hormone-tainted meat in comparison to castrated animals and are likely to be more aggressive. Cryptorchidism can lead to reduced animal welfare outcomes and cause economic losses. Identifying genetic markers for cryptorchidism is an essential step toward mitigating these negative outcomes and may facilitate genome manipulation to reduce the occurrence of cryptorchidism...
February 9, 2023: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://read.qxmd.com/read/36746123/testicular-architecture-of-men-with-46-xx-testicular-disorders-of-sex-development
#12
JOURNAL ARTICLE
Mirkka Hiort, Julia Rohayem, Regine Knaf, Sandra Laurentino, Agnethe Berglund, Claus H Gravholt, Jörg Gromoll, Joachim Wistuba
BACKGROUND: A subtype of Disorders of Sex Development (DSD) in individuals with a 46,XX karyotype who are phenotypically male is classified as testicular DSD (46,XX TDSD). These individuals develop testes but are infertile due to germ cell loss. However, little is known about their testicular architecture. METHODS: We analyzed biopsies of four SRY positive 46,XX TDSD men for testicular architecture, Sertoli (SCs) and Leydig cells (LCs). These were compared with biopsies of men with normal spermatogenesis (NS, n=4), men with Klinefelter syndrome, 47 XXY, (KS, n=4), and men with AZF deletion (AZF, n=5)...
February 6, 2023: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://read.qxmd.com/read/36724755/genetic-variants-in-srd5a2-in-a-spectrum-of-dsd-patients-from-australian-clinics-highlight-importance-of-genetic-testing-alongside-typical-first-line-investigations
#13
JOURNAL ARTICLE
Gorjana Robevska, Chloe Hanna, Jocelyn van den Bergen, John Welch, Jennifer Couper, Shannon Harris, Kriti Joshi, Justin Brown, Matthew Sabin, Andrew Sinclair, Michele O'Connell, Katie Ayers
INTRODUCTION: Steroid 5-alpha reductase deficiency (5α-R2D) is a rare condition caused by genetic variants that reduce the activity of the enzyme that converts testosterone into dihydrotestosterone. The clinical spectrum of 5α-R2D is known to overlap with other 46,XY differences of sex development (DSD) such as androgen insensitivity or gonadal dysgenesis. However, the clinical trajectories of the aetiologies can differ, with 5α-R2D presenting its own challenges. METHODS: In this study, we have collated clinical information for five individuals with variants in SRD5A2 identified using research genetic testing in an Australian paediatric setting...
February 1, 2023: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://read.qxmd.com/read/36702107/epigenetic-mechanisms-governing-female-and-male-germline-development-in-mammals
#14
REVIEW
Kenjiro Shirane, Matthew Lorincz
Background DNA methylation (DNAme) and histone post-translational modifications (PTMs) play an integral role in the transcriptional regulation of specific sets of genes and retrotransposons. In turn, these chromatin marks are essential for cellular reprogramming, including during germline development. While DNAme is stably propagated in most somatic tissues, this epigenetic mark undergoes cycles of widespread erasure and re-establishment in the early embryo as well as in the germline. Summary De novo DNAme occurs at distinct developmental stages in male and female germ cells; before birth in prospermatogonia (PSG) and after birth in growing oocytes...
January 26, 2023: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://read.qxmd.com/read/36689917/targeted-next-generation-sequencing-for-the-diagnosis-of-gene-variants-in-patients-with-46-xy-disorder-of-sex-development
#15
JOURNAL ARTICLE
Qiang Guo, Wen Wen Zhong, Hua Jian Lai, Lei Ye, Yi Fei Zhang, Jun Tao Li, Jian Guang Qiu, Dejuan Wang
INTRODUCTION: Disorders of sex development (DSDs) are congenital abnormalities in which chromosomal, gonadal, and anatomical sex development are atypical. One of these disorders, 46, XY DSD, is particularly difficult to diagnose and manage because its etiology and clinical phenotypes are highly heterogeneous. METHODS: We used a gene panel containing 141 genes implicated in DSDs to perform targeted next-generation sequencing (NGS) in 50 patients with 46, XY DSD. RESULTS: Gene variants were detected in 23 patients (46%)...
January 23, 2023: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://read.qxmd.com/read/36657429/are-nr5a1-variations-a-frequent-cause-of-46-xx-ovotesticular-disorders-of-sex-development-analysis-from-a-single-center-and-systematic-review
#16
JOURNAL ARTICLE
Beatriz Amstalden Barros, Mara Sanches Guaragna, Helena Fabbri-Scallet, Maricilda Palandi de Mello, Gil Guerra-Júnior, Andréa Trevas Maciel-Guerra
INTRODUCTION: Ovotesticular disorder of sex development (OT-DSD) is a rare condition defined by concomitance of testicular tissue and ovarian tissue (containing follicles) in the same individual. In SRY-negative 46,XX OT-DSD, the presence of testicular tissue may be due to variations in NR5A1. Our aims were to search for NR5A1 variants in SRY-negative 46,XX OT-DSD patients and to perform a systematic review on the contribution of NR5A1 variations to 46,XX OT-DSD. METHODS: Sanger sequencing of NR5A1 was performed in seven SRY-negative 46,XX OT-DSD patients: five simplex cases and two with another sibling with a 46,XX DSD...
January 19, 2023: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://read.qxmd.com/read/36652930/presentation-diagnosis-and-follow-up-characteristics-of-17%C3%AE-hydroxylase-deficiency-cases-with-exon-1-6-deletion-founder-mutation-in-the-cyp17a1-gene-20-years-single-center-experience
#17
JOURNAL ARTICLE
Ismail Dundar, Aysehan Akinci, Emine Camtosun, Nurdan Ciftci, Leman Kayas
CONTEXT: 17α-hydroxylase/17,20-lyase deficiency (17OHD) is characterized by decreased sex steroids and cortisol synthesis, as well as an increased mineralocorticoid effect. AIM: This study aimed to evaluate the clinical, biochemical, and molecular characteristics of patients with 17OHD and to discuss the diagnosis, treatment, and follow-up process. METHODS: Age, symptoms, anthropometric measurements, blood pressure, and hormonal, biochemical, and chromosomal analysis results of 13 patients diagnosed with 17OHD between 2003 and 2022 were recorded at admission and during follow-up...
January 18, 2023: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://read.qxmd.com/read/36646055/factors-within-the-developing-embryo-and-ovarian-microenvironment-that-influence-primordial-germ-cell-fate
#18
REVIEW
Monica M Laronda
BACKGROUND: Primordial germ cell (PGC) fate is dictated by the designation, taxis, and influence of the surrounding embryonic somatic cells. Whereas gonadal sex determination results from a balance of factors within the tissue microenvironment. SUMMARY: Our understanding of mammalian ovary development is formed in large part from developmental time courses established using murine models. Genomic tools where genes implicated in the PGC designation or gonadal sex determination have been modulated through complete or conditional knockouts in vivo, and studies in in situ models with inhibitors or cultures that alter the native gonadal environment have pieced together the interplay of pioneering transcription factors, co-regulators and chromosomes critical for the progression of PGCs to oocytes...
January 16, 2023: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://read.qxmd.com/read/36626890/a-surgical-and-clinical-approach-to-persistent-m%C3%A3-llerian-duct-syndrome-laparoscopic-histological-and-molecular-findings
#19
JOURNAL ARTICLE
María Celeste Mattone, María Victoria Lobo de la Vega, Emiro J Redondo, Pablo D'Alessandro, Natalia Perez Garrido, María Laura Galluzzo, Mariana Costanzo, Verónica Zaidman, Juan Manuel Lazzati, Esperanza Berensztein, Pablo Ramirez, Roxana Marino, Alicia Belgorosky, Marta Ciaccio, Marcela Bailez, Gabriela Guercio
BACKGROUND: Persistent müllerian duct syndrome (PMDS) is characterized by the persistence of müllerian duct derivatives in otherwise normally virilized 46,XY males. Biallelic mutations of the anti-müllerian hormone (AMH) and AMH receptor type 2 (AMHR2) genes lead to PMDS type 1 and 2, respectively. AIM: The aims of the study were to report the clinical, hormonal, and genetic findings in a patient with PMDS and discuss surgical strategies to achieve successful orchidopexy...
January 10, 2023: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://read.qxmd.com/read/37611562/preface-to-the-special-issue-on-ovarian-development
#20
EDITORIAL
Dagmar Wilhelm, Joan Jorgensen
No abstract text is available yet for this article.
2023: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
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