The Battle of the Sexes: Human Sex Development and Its Disorders

Biason‐Lauber, Anna

doi:10.1007/978-3-319-31973-5_13

Cited by 11 publications

(26 citation statements)

References 216 publications

(240 reference statements)

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“…The phenotypic sex of a person depends on the type of gonad that develops in the embryo, a process that in itself is determined by the constitution or genetic inheritance of the individual, although the development of the gonads is different from that of any other organ, since they have the potential to differentiate into two functionally distinct organs, i.e., testes or ovaries [10,11]. However, there are many more elements that determine the sex of an individual; additionally, a person's sexual identity includes any behaviors with sexual overtones, such as characteristic gestures and habits, ways of speaking, preferences about leisure, and the content of dreams.…”

Section: Determination and Differentiation Of The Human Sexmentioning

confidence: 99%

“…Therefore, sex differentiation includes the hormonal sex, the gonophoric sex (i.e., internal genitalia), the phenotypic sex (i.e., external genitalia and general phenotype), and the legal, educational, psychological, and social sex. Generally speaking, the factors influencing sex determination are transcriptional regulators, whereas the factors important for sex differentiation are secreted hormones and their receptors [10,11,21], although many of the genes responsible for sex determination are also responsible for gonadal steroidogenesis and, therefore, for subsequent sex differentiation. Disruption of any of the genes involved in these processes during the course of testicular or ovarian development, or in the subsequent sex differentiation, could lead to ASDs (or DSDs) [10,11].…”

Section: Determination and Differentiation Of The Human Sexmentioning

confidence: 99%

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Disorders of Sex Development: Classification, Review, and Impact on Fertility

Acién

2020

JCM

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In this review, the elements included in both sex determination and sex differentiation are briefly analyzed, exposing the pathophysiological and clinical classification of disorders or anomalies of sex development. Anomalies in sex determination without sex ambiguity include gonadal dysgenesis, polysomies, male XX, and Klinefelter syndrome (dysgenesis and polysomies with a female phenotype; and sex reversal and Klinefelter with a male phenotype). Other infertility situations could also be included here as minor degrees of dysgenesis. Anomalies in sex determination with sex ambiguity should (usually) include testicular dysgenesis and ovotesticular disorders. Among the anomalies in sex differentiation, we include: (1) males with androgen deficiency (MAD) that correspond to those individuals whose karyotype and gonads are male (XY and testes), but the phenotype can be female due to different hormonal abnormalities. (2) females with androgen excess (FAE); these patients have ovaries and a 46,XX karyotype, but present varying degrees of external genital virilization as a result of an enzyme abnormality that affects adrenal steroid biosynthesis and leads to congenital adrenal hyperplasia; less frequently, this can be caused by iatrogenia or tumors. (3) Kallman syndrome. All of these anomalies are reviewed and analyzed herein, as well as related fertility problems.

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Section: Determination and Differentiation Of The Human Sexmentioning

confidence: 99%

Section: Determination and Differentiation Of The Human Sexmentioning

confidence: 99%

Disorders of Sex Development: Classification, Review, and Impact on Fertility

Acién

2020

JCM

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“…The impact of 46,XY DSD in the life of the affected individuals and their families is immense, as these conditions require long-term clinical, endocrinological, and psychological management (5). Adequate management of the newborn with 46,XY DSD is challenging, because it affects sex assignment (and possible re-assignment), decisions on gonadal management (including oncological risk), hormone replacement therapy from adolescence onward (when needed), and lifelong health status (3,(5)(6)(7)(8). Early correct diagnosis is a key factor for optimizing quality of life, but true diagnoses based on pathogenetic pathways is still not reached in some individuals (9-14), jeopardizing outcome.…”

Section: Figure 1 | Schematic Representation Of Male Sex Differentiation In Uteromentioning

confidence: 99%

“…In recent years, the management of 46,XY DSD has changed. New ideas on psycho-sexual development as the result of multifaceted genetic, hormonal, and psychosocial influences have arisen (3,(32)(33)(34)(35)(36). Both biological sex and psychosexual development are considered as a spectrum of possibilities rather than a simple binary male/female system (37,38).…”

Section: Sex Assignmentmentioning

confidence: 99%

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Disorders/Differences of Sex Development Presenting in the Newborn With 46,XY Karyotype

et al. 2021

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Differences/disorders of sex development (DSD) are a heterogeneous group of congenital conditions, resulting in discordance between an individual's sex chromosomes, gonads, and/or anatomic sex. The management of a newborn with suspected 46,XY DSD remains challenging. Newborns with 46,XY DSD may present with several phenotypes ranging from babies with atypical genitalia or girls with inguinal herniae to boys with micropenis and cryptorchidism. A mismatch between prenatal karyotype and female phenotype is an increasing reason for presentation. Gender assignment should be avoided prior to expert evaluation and possibly until molecular diagnosis. The classic diagnostic approach is time and cost-consuming. Today, a different approach may be considered. The first line of investigations must exclude rare life-threatening diseases related to salt wasting crises. Then, the new genetic tests should be performed, yielding increased diagnostic performance. Focused imaging or endocrine studies should be performed on the basis of genetic results in order to reduce repeated and invasive investigations for a small baby. The challenge for health professionals will lie in integrating specific genetic information with better defined clinical and endocrine phenotypes and in terms of long-term evolution. Such advances will permit optimization of counseling of parents and sex assignment. In this regard, society has significantly changed its attitude to the acceptance and expansion beyond strict binary male and female sexes, at least in some countries or cultures. These management advances should result in better personalized care and better long-term quality of life of babies born with 46,XY DSD.

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A novel WT1 gene mutation in a chinese girl with denys‐drash syndrome

Wang

Cai

Wang

et al. 2021

Clinical Laboratory Analysis

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Objective Denys‐Drash syndrome (DDS) is defined by the triad of Wilms tumor, nephrotic syndrome, and/or ambiguous genitalia. Genetic testing may help identify new gene mutation sites and play an important role in clinical decision‐making. Methods We present a patient with an XY karyotype and female appearance, nephropathy, and Wilms tumor in the right kidney. Genomic DNA was extracted from peripheral blood cells according to standard protocols. “Next‐generation” sequencing (NGS) was performed to identify novel variants. The variant was analyzed with Mutation Taster, and its function was explored by a cell growth inhibition assay. Results We found the first case of Denys‐Drash syndrome with the uncommon missense mutation (c.1420C>T, p.His474 Tyr) in the WT1 gene. In silico analysis, the variant was predicted “disease‐causing” by Mutation Taster. The mutated variant showed a weaker effect in inhibiting tumor cells than wild‐type WT1. Conclusions The uncommon missense mutation (c.1420C>T, p.His474 Tyr) in the WT1 gene may be a crucial marker in DDS.

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The Battle of the Sexes: Human Sex Development and Its Disorders

Cited by 11 publications

References 216 publications

Disorders of Sex Development: Classification, Review, and Impact on Fertility

Disorders of Sex Development: Classification, Review, and Impact on Fertility

Disorders/Differences of Sex Development Presenting in the Newborn With 46,XY Karyotype

A novel WT1 gene mutation in a chinese girl with denys‐drash syndrome

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