Double heterozygous PROK2 p.(Ile55Ter)-PROKR2 p.(Arg85Leu) variants: case report of an oligogenic case of congenital hypogonadotropic hypogonadism with anosmia [0.03%]
PROK2 p.(Ile55Ter)-PROKR2 p.(Arg85Leu)双杂合变异：先天性低促性腺激素性性腺功能减退伴嗅觉缺失的少基因病病例报告
Mariela Urrutia,Franco Gino Brunello,Lorena Minaberry et al.
Mariela Urrutia et al.
Introduction: Delayed puberty in males requires differentiation between self-limited delay and congenital hypogonadotropic hypogonadism (CHH), including Kallmann syndrome (KS). ...
Canine XX DSD (SRY-negative): A Potential Role For The FOXL2 Gene [0.03%]
FOXL2基因在无SRY的犬XX两性畸形中的潜在作用
Paulina Krzeminska
Paulina Krzeminska
Background Disorders/differences of sex development (DSDs) comprise a group of congenital conditions characterized by atypical gonadal and/or anatomical development of the reproductive system. Among them, XX DSD (SRY-negative) represents a ...
Differences in early development between parental species and asexual hybrids forms of European spined loaches (genus Cobitis) [0.03%]
欧洲有刺鰍鱼（花齿鱼属）亲缘物种和无性杂交种早期发育的差异
Alena Zikmundová,Grzegorz Skórzewski,Roman Franěk et al.
Alena Zikmundová et al.
Introduction Hybridization and polyploidy are increasingly recognized as major drivers of evolutionary innovation. By merging and multiplying genomes, they induce profound regulatory and structural perturbations that can alter phenotypes, y...
Cytogenomic Investigation of Individuals with Ovotesticular Difference of Sex Development [0.03%]
性发育异常伴卵睾畸形个体的细胞遗传学研究
Júlia Lima-Santos,Carolina Gama Nascimento-Vidoti,Gabriela Roldão Correia-Costa et al.
Júlia Lima-Santos et al.
Introduction: Ovotesticular Difference of Sex Development (OT-DSD) may result from chimerism, mosaicism, structural or sequence variants. However, even after investigating all known causes, many individuals still lack an ...
Maciej Zacharski,Katarzyna Pieczka,Stanisław Dzimira
Maciej Zacharski
We describe a hunted red deer (Cervus elaphus elaphus) with well-developed antlers and male-typical morphology, but female-like external genitalia characterized by a hypertrophic clitoris/penile-like protrusion and absence of a scrotum. Onl...
WT1 Deletion in 46,XY DSD: The Importance of Copy Number Variant Analysis [0.03%]
WT1基因缺失在46,XY发育畸形中的意义：拷贝数变异分析的重要性
Gabby Atlas,Katrina M Bell,Gorjana Robevska et al.
Gabby Atlas et al.
Introduction: Diagnostic copy number variants (CNVs) have been detected in up to 30% of individuals with DSD. Tools have been developed to detect CNVs from exome/genome sequencing. ...
XX/XY chimerism in tortoiseshell tomcats - a new case and review of the literature [0.03%]
嵌合体公布斑猫的XX/XY嵌合现象的新病例及文献综述
Izabela Szczerbal,Joanna Nowacka-Woszuk,Marek Switonski
Izabela Szczerbal
Introduction: Tortoiseshell coat color in cats typically occurs in females due to random X-chromosome inactivation, which affects the expression of the orange coat color gene. The presence of a tortoiseshell phenotype in ...
Functional validation of a novel PBX1 missense variant in a 46,XY girl [0.03%]
46,XY女性中PBX1新型错义变异的功能验证
Meng-Che Tsai,Yun-Han Weng,Yi-Chieh Wang et al.
Meng-Che Tsai et al.
Introduction: The pre-B cell leukemia transcription factor encoded by PBX1 is expressed throughout human embryonic stages. Accumulating cases with differences of sex development (DSDs) have been reported harboring PBX1 va...
Testicular volume of 4 mL is not an appropriate marker of pubertal onset in a subset of boys born small for gestational age [0.03%]
睾丸体积4毫升不适用于一组宫内生长受限男童进入青春期的判定指标
Sofia Suco,Patricia Bedecarrás,María Gabriela Ballerini et al.
Sofia Suco et al.
Introduction: Considering that testicular volume (TV) is probably not an adequate marker of pubertal onset in boys born small for gestational age (SGA), we aimed to describe the progression of pubertal clinical and bioche...
Identification of Novel and Known Variants in Epigenetic Genes Associated with Syndromic 46,XY Differences of Sex Development among Moroccan Patients [0.03%]
摩洛哥患者表型相关联的染色体性腺异常综合征的表观遗传基因新位点和已知位点鉴定
Imane Cherkaoui,Saida Lhousni,Manal Elidrissi Errahhali et al.
Imane Cherkaoui et al.
Introduction: 46,XY differences of sex development (DSD) are conditions with extreme phenotypic and genetic heterogeneity. Therefore, their diagnosis remains a major challenge for both clinicians and geneticists. In this ...