Sexual Development最新文献_第2页

The Aging Ovary and the Tales Learned Since Fetal Development. 卵巢老化和胎儿发育以来的故事。

IF 2.4 4区医学

Sexual Development Pub Date : 2023-01-01 Epub Date: 2023-08-18 DOI: 10.1159/000532072

Jesus Lopez, Gabe Hohensee, Jing Liang, Meirav Sela, Joshua Johnson, Amanda N Kallen

{"title":"The Aging Ovary and the Tales Learned Since Fetal Development.","authors":"Jesus Lopez, Gabe Hohensee, Jing Liang, Meirav Sela, Joshua Johnson, Amanda N Kallen","doi":"10.1159/000532072","DOIUrl":"10.1159/000532072","url":null,"abstract":"Background: While the term \"aging\" implies a process typically associated with later life, the consequences of ovarian aging are evident by the time a woman 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 reproductive 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. In the ovary, sophisticated molecular processes have been identified that regulate the timing of ovarian aging and these are critical to ensuring follicular maintenance.Summary: The mechanisms thought to contribute to overall aging have been summarized under the term the \"hallmarks of aging\" and include such processes as DNA damage, mitochondrial dysfunction, telomere attrition, genomic instability, and stem cell exhaustion, among others. Similarly, in the ovary, molecular processes have been identified that regulate the timing of ovarian aging and these are critical to ensuring follicular maintenance. In this review, we outline critical processes involved in ovarian aging, highlight major achievements for treatment of ovarian aging, and discuss ongoing questions and areas of debate.Key messages: Ovarian aging is recognized as what may be a complex process in which age, genetics, environment, and many other factors contribute to the size and depletion of the follicle pool. The putative hallmarks of reproductive aging outlined herein include a diversity of plausible processes contributing to the depletion of the ovarian reserve. More research is needed to clarify if and to what extent these putative regulators do in fact govern follicle and oocyte behavior, and how these signals might be integrated in order to control the overall pattern of ovarian aging.","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":" ","pages":"156-168"},"PeriodicalIF":2.4,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10841896/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10021942","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Development of Ovaries and Sex Change in Fish: Bringing Potential into Action. 鱼类卵巢的发育和性别变化:将潜能转化为行动。

IF 2.3 4区医学

Sexual Development Pub Date : 2023-01-01 Epub Date: 2023-03-06 DOI: 10.1159/000526008

Mateus Contar Adolfi, Alexandra Depincé, Ming Wen, Qiaowei Pan, Amaury Herpin

{"title":"Development of Ovaries and Sex Change in Fish: Bringing Potential into Action.","authors":"Mateus Contar Adolfi, Alexandra Depincé, Ming Wen, Qiaowei Pan, Amaury Herpin","doi":"10.1159/000526008","DOIUrl":"10.1159/000526008","url":null,"abstract":"Background: Encompassing about half of the 60,000 species of vertebrates, fish display the greatest diversity of sex determination mechanisms among metazoans. As such that phylum offers a unique playground to study the impressive variety of gonadal morphogenetic strategies, ranging from gonochorism, with either genetic or environmental sex determination, to unisexuality, with either simultaneous or consecutive hermaphroditism.Summary: From the two main types of gonads, the ovaries embrace the important role to produce the larger and non-motile gametes, which is the basis for the development of a future organism. The production of the egg cells is complex and involves the formation of follicular cells, which are necessary for the maturation of the oocytes and the production of feminine hormones. In this vein, our review focuses on the development of ovaries in fish with special emphasis on the germ cells, including those that transition from one sex to the other as part of their life cycle and those that are capable of transitioning to the opposite sex depending on environmental cues.Key messages: Clearly, establishing an individual as either a female or a male is not accomplished by the sole development of two types of gonads. In most cases, that dichotomy, be it final or transient, is accompanied by coordinated transformations across the entire organism, leading to changes in the physiological sex as a whole. These coordinated transformations require both molecular and neuroendocrine networks, but also anatomical and behavioural adjustments. Remarkably, fish managed to tame the ins and outs of sex reversal mechanisms to take the most advantages of changing sex as adaptive strategies in some situations.","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":" ","pages":"84-98"},"PeriodicalIF":2.3,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10850202","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Presentation, Diagnosis, and Follow-Up Characteristics of 17α-Hydroxylase Deficiency Cases with Exon 1-6 Deletion (Founder Mutation) in the CYP17A1Gene: 20-Year Single-Center Experience. cyp17a1基因外显子1-6缺失(方正突变)的17α-羟化酶缺乏症的表现、诊断和随访特征:20年单中心经验

IF 2.3 4区医学

Sexual Development Pub Date : 2023-01-01 DOI: 10.1159/000529158

Ismail Dundar, Aysehan Akinci, Emine Camtosun, Nurdan Ciftci, Leman Kayas

{"title":"Presentation, Diagnosis, and Follow-Up Characteristics of 17α-Hydroxylase Deficiency Cases with Exon 1-6 Deletion (Founder Mutation) in the CYP17A1Gene: 20-Year Single-Center Experience.","authors":"Ismail Dundar, Aysehan Akinci, Emine Camtosun, Nurdan Ciftci, Leman Kayas","doi":"10.1159/000529158","DOIUrl":"https://doi.org/10.1159/000529158","url":null,"abstract":"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. Whole gene next-generation sequencing was performed for the CYP17A1 gene. Multiplex ligation-dependent probe amplification was used to detect deletions in patients without point mutations in CYP17A1.Results: The median age at diagnosis was 14.0 (3.5-16.8) years. Nine of 13 patients (69.2%) had 46,XY karyotypes. All patients were phenotypically female and were raised as girls. The most common reasons for admission were the absence of puberty and amenorrhea (n = 8, 61.5%), followed by hypertension (n = 3, 23.0%), and family screening (n = 2, 15.3%). At the time of diagnosis, hypertension was detected in 10 (76.9%) patients, and 11 (84.6%) patients had hypokalemia.Conclusions: 17OHD should be considered in patients with pubertal delay/primary amenorrhea, hypertension, and hypokalemia. Adrenal function should be included in the clinical study of hypergonadotropic hypogonadism, after excluding Turner syndrome, in all 46,XX females. Deletion in the CYP17A1 gene, including exons 1-6, is the founder mutation for Turkey's east and southeast regions.","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":"17 1","pages":"43-50"},"PeriodicalIF":2.3,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10321950","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Mutations in STARD8 (DLC3) May Cause 46,XY Gonadal Dysgenesis. STARD8 (DLC3) 基因突变可能导致 46,XY 性腺发育不良。

IF 2.4 4区医学

Sexual Development Pub Date : 2023-01-01 Epub Date: 2024-03-08 DOI: 10.1159/000537877

Dmytro Sirokha, Alexey Rayevsky, Olexandra Gorodna, Vitalii Kalynovskyi, Nataliya Zelinska, Oksana Samson, Krystyna Kwiatkowska, Serge Nef, Jadwiga Jaruzelska, Kamila Kusz-Zamelczyk, Ludmila Livshits

{"title":"Mutations in STARD8 (DLC3) May Cause 46,XY Gonadal Dysgenesis.","authors":"Dmytro Sirokha, Alexey Rayevsky, Olexandra Gorodna, Vitalii Kalynovskyi, Nataliya Zelinska, Oksana Samson, Krystyna Kwiatkowska, Serge Nef, Jadwiga Jaruzelska, Kamila Kusz-Zamelczyk, Ludmila Livshits","doi":"10.1159/000537877","DOIUrl":"10.1159/000537877","url":null,"abstract":"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 testes integrity during their development.Methods: We analysed the potential pathogenicity of another STARD8 mutation, p.R887C, that was identified in a patient with 46,XY asymmetric gonadal dysgenesis. For this purpose, molecular dynamics simulations were performed.Results: These simulations revealed the full rearrangement of the helix containing the p.R887C substitution upstream from the START domain, which may cause STARD8 protein dysfunction and contribute to 46,XY gonadal dysgenesis. A comparison of the phenotypes of the three described 46,XY gonadal dysgenesis patients that harbour STARD8 mutations indicated that alterations of this gene can result in a partial or complete gonadal dysgenesis phenotype.Conclusion: Based on these and previous results, it is reasonable to include STARD8 in gene panels for 46,XY gonadal dysgenesis.","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":" ","pages":"181-189"},"PeriodicalIF":2.4,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140050835","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Avian Sex Determination: A Chicken and Egg Conundrum. 鸟类性别决定:鸡和蛋的难题。

IF 2.3 4区医学

Sexual Development Pub Date : 2023-01-01 Epub Date: 2023-02-16 DOI: 10.1159/000529754

Michael Clinton, Debiao Zhao

{"title":"Avian Sex Determination: A Chicken and Egg Conundrum.","authors":"Michael Clinton, Debiao Zhao","doi":"10.1159/000529754","DOIUrl":"10.1159/000529754","url":null,"abstract":"Background: Primary sex determination is the developmental process that results in the sexual differentiation 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 utilized to initiate primary sex determination. In birds, the male is the homogametic sex (ZZ), and significant differences exist between the avian system of sex determination and that of mammals. For example, DMRT1, FOXL2, and estrogen are key factors in gonadogenesis in birds, but none are essential for primary sex determination in mammals.Key message: Gonadal sex determination in birds is thought to depend on a dosage-based mechanism involving expression of the Z-linked DMRT1 gene, and it may be that this \"mechanism\" is simply an extension of the cell autonomous sex identity associated with avian tissues, with no sex-specific trigger required.","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":" ","pages":"120-133"},"PeriodicalIF":2.3,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10659007/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10740147","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2

A Surgical and Clinical Approach to Persistent Müllerian Duct Syndrome: Laparoscopic, Histological, and Molecular Findings. 手术和临床方法治疗持续性<s:1> lererian管综合征:腹腔镜，组织学和分子的发现。

IF 2.3 4区医学

Sexual Development Pub Date : 2023-01-01 DOI: 10.1159/000526992

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

{"title":"A Surgical and Clinical Approach to Persistent Müllerian Duct Syndrome: Laparoscopic, Histological, and Molecular Findings.","authors":"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","doi":"10.1159/000526992","DOIUrl":"https://doi.org/10.1159/000526992","url":null,"abstract":"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.Results: A 4-year-old boy was evaluated after the incidental finding of müllerian derivates during laparoscopy for nonpalpable gonads. Karyotype was 46,XY and laboratory tests revealed normal serum gonadotropin and androgen levels but undetectable serum AMH levels. PMDS was suspected. Molecular analysis revealed a novel variant c.902_929del in exon 5 and a previously reported mutation (c.367C>T) in exon 1 of the AMH gene. Successful orchidopexy was performed in two sequential surgeries in which the müllerian duct structure was preserved and divided to protect the vascular supply to the gonads. Histological evaluation of the testicular biopsy showed mild signs of dysgenesis. Doppler ultrasound showed blood flow in both testes positioned in the scrotum 1.5 years after surgery.Conclusion: PMDS is a rare entity that requires a high index of suspicion (from surgeons) when evaluating a patient with bilateral cryptorchidism. Surgical treatment is challenging and long-term follow-up is essential. Histological evaluation of the testis deserves further investigation.","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":"17 1","pages":"1-7"},"PeriodicalIF":2.3,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9965917","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Pubertal and Gonadal Outcomes in 46,XY Individuals with Partial Androgen Insensitivity Syndrome Raised as Girls. 46,XY型部分雄激素不敏感综合征女孩的青春期和性腺结局。

IF 2.3 4区医学

Sexual Development Pub Date : 2023-01-01 DOI: 10.1159/000526997

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

{"title":"Pubertal and Gonadal Outcomes in 46,XY Individuals with Partial Androgen Insensitivity Syndrome Raised as Girls.","authors":"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","doi":"10.1159/000526997","DOIUrl":"https://doi.org/10.1159/000526997","url":null,"abstract":"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.Methods: The current study interrogated the International Disorders of Sex Development Registry for available data on management and pubertal outcomes in individuals with genetically confirmed PAIS who were raised as girls.Results: Among the 11 individuals who fulfilled the key criteria for inclusion, the external masculinization score (EMS) at presentation ranged from 2 to 6 (median 5); 7 girls underwent gonadectomy before the age of 9 years, whereas 4 underwent gonadectomy in the teenage years (≥ age 13). Clitoral enlargement at puberty was reported for 3 girls (27%) who presented initially at the time of puberty with intact gonads. In the 9 individuals (82%) for whom gonadal pathology data were provided, there was no evidence of germ cell tumor at median age of 8.1 years. All girls received estrogen replacement, and 8/11 had attained Tanner stage 4-5 breast development at the last assessment.Conclusion: In general, although it appears that female assignment in PAIS is becoming uncommon, our data provide no evidence to support the practice of prophylactic prepubertal gonadectomy with respect to the risk of a germ cell tumor.","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":"17 1","pages":"16-25"},"PeriodicalIF":2.3,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10023227","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Testicular Architecture of Men with 46,XX Testicular Disorders of Sex Development. 46、XX性发育障碍男性睾丸结构分析。

IF 2.3 4区医学

Sexual Development Pub Date : 2023-01-01 DOI: 10.1159/000528955

Mirkka Hiort, Julia Rohayem, Regine Knaf, Sandra Laurentino, Agnethe Berglund, Claus H Gravholt, Jörg Gromoll, Joachim Wistuba

{"title":"Testicular Architecture of Men with 46,XX Testicular Disorders of Sex Development.","authors":"Mirkka Hiort, Julia Rohayem, Regine Knaf, Sandra Laurentino, Agnethe Berglund, Claus H Gravholt, Jörg Gromoll, Joachim Wistuba","doi":"10.1159/000528955","DOIUrl":"https://doi.org/10.1159/000528955","url":null,"abstract":"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 deletions (AZF, n = 5). Testicular architecture was evaluated and SCs and LCs were analyzed for specific markers (SC: SOX9, DMRT1; LC: INSL3).Results: A smaller number of tubules, more SOX9-negative but similar proportions of DMRT1-negative SCs were found in 46,XX TDSD compared to NS. The lower number of tubules and severe LC hyperplasia observed in 46,XX TDSD were similar to KS.Conclusion: Testicular architecture and marker expression of SCs and LCs in 46,XX TDSD men display unique patterns, which are discernable from chromosomal aneuploidies. Given the reduced Y-chromosomal gene content in 46,XX TDSD, the supernumerary X chromosome effects may be decisive regarding the damage on testicular composition and endocrine function.","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":"17 1","pages":"32-42"},"PeriodicalIF":2.3,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10340738","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Preface to the Special Issue on Ovarian Development. 卵巢发育特刊前言。

IF 2.3 4区医学

Sexual Development Pub Date : 2023-01-01 Epub Date: 2023-08-23 DOI: 10.1159/000532074

Dagmar Wilhelm, Joan Jorgensen

引用次数: 0

Genetic Variants in SRD5A2 in a Spectrum of DSD Patients from Australian Clinics Highlight Importance of Genetic Testing alongside Typical First-Line Investigations. 来自澳大利亚诊所的DSD患者光谱中SRD5A2的遗传变异强调了基因检测和典型一线调查的重要性。

IF 2.3 4区医学

Sexual Development Pub Date : 2023-01-01 DOI: 10.1159/000527754

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

{"title":"Genetic Variants in SRD5A2 in a Spectrum of DSD Patients from Australian Clinics Highlight Importance of Genetic Testing alongside Typical First-Line Investigations.","authors":"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","doi":"10.1159/000527754","DOIUrl":"https://doi.org/10.1159/000527754","url":null,"abstract":"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.Results: We describe how a genetic finding resolved or confirmed a diagnosis for these individuals and how it guided clinical management and family counselling.Conclusion: This work highlights the importance of early genetic testing in children born with 46,XY DSD where it complements traditional first-line testing.","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":"17 1","pages":"8-15"},"PeriodicalIF":2.3,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9959932","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0