Clinical Findings and Follow-Up of 46,XY and 45,X/46,XY Testicular Dysgenesis

Andrade, Juliana Gabriel Ribeiro de; Fabbri‐Scallet, Helena; Santos, Ana Paula dos; Cools, Martine; Werner, Ralf; Hiort, Olaf; Mello, Maricilda Palandi de; Guerra‐Júnior, Gil; Maciel‐Guerra, Andréa Trevas

doi:10.1159/000504239

Cited by 19 publications

(17 citation statements)

References 35 publications

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“…(1) Dysgenetic male Ps (or XY partial gonadal dysgenesis (PGD)) is characterized by dysgenetic testes on each side, without a gonadal band streak, but with a karyotype and symptoms that are impossible to differentiate from the mixed gonadal dysgenesis that we will analyze later. In fact, Andrade et al [73], who studied 61 patients with testicular dysgenesis in their service between 1989 and 2013, pointed out that although historically, the terms partial (PGD) and mixed gonadal dysgenesis (MGD) have been used to describe an incomplete testicular differentiation in individuals with the 46,XY or 45,X/46,XY karyotypes, respectively, it is currently unclear as to what extent the clinical features actually differ between these individuals, and they proposed a classification based on the karyotype [73]. The difference between dysgenetic male Ps and sex reversal is also in the karyotype (sex reversal is 46,XX), and that patients with dysgenetic male Ps have Müllerian ducts (derivatives) and present sex ambiguity, whereas individuals with sex reversal are phenotypic males.…”

Section: Testicular Dysgenesismentioning

confidence: 99%

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: Testicular Dysgenesismentioning

confidence: 99%

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

Acién

2020

JCM

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“…Severely dysgenetic gonads that cannot be brought in a stable scrotal position can best be removed. In affirmed females with partial testicular dysgenesis, gonadectomy will prevent further virilization apart from GCC development [4,15,28,33].…”

Section: Gonadal Function and Gcc Riskmentioning

confidence: 99%

Multidisciplinary Approach to the Child with Sex Chromosomal Mosaicism Including a Y-Containing Cell Line

Debo

Loocke

Groote

et al. 2021

IJERPH

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Children born with sex chromosomal mosaicism including material derived from the Y chromosome may present with a broad phenotypical spectrum. Both boys and girls can present with Turner features and functional health problems typically associated with Turner syndrome, but the presence of Y-chromosomal material can modify some aspects of the condition. We retrospectively analyzed the results of our cohort of 21 individuals (14 boys, 7 girls) with sex chromosomal mosaicism including Y-derived material followed at Ghent University Hospital according to our local multidisciplinary Turner surveillance protocol. Results were compared with literature data, focusing on similarities and differences between girls and boys with this condition. Age at diagnosis was lower in boys compared to girls but the difference was not significant. Short stature is a key feature of the condition both in girls and boys, but skeletal maturation may be different between groups. The effects of growth-hormone therapy remain unclear. Cardiac (33%), ear-nose- throat (ENT) (77.8%) and renal (28.6%) problems were as prevalent in boys as in girls from our cohort, and did not differ from literature data. In line with literature reports, a significant difference in the presence of premalignant germ cell tumors between males (0%) and females (42.9%) was found (p = 0.026). Taken together, this study demonstrates the similarities between girls with Turner syndrome and children with sex chromosomal mosaicism including Y-derived material, regardless of the child’s gender. Nowadays, girls with Turner syndrome are offered a dedicated multidisciplinary follow-up in many centers. We advocate a similar follow-up program for all children who have sex chromosomal mosaicism that includes Y-derived material, with special attention to growth, cardiac and ear-nose-throat problems, gonadal function and malignancies.

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“…Testes are small, have a thin albuginea with scarce seminiferous tubules separated by wide spaces of fibrous connective tissue. Germ cell number is significantly decreased, and gonadal tumor risk is increased (38,72,73). The trend for male assignment in these cases has increased over the last decades (74), and the surgical repair of hypospadias and management of tumor risk have become the main challenges in the management (36).…”

Section: Gonadal Dysgenesis In 46xy Patientsmentioning

confidence: 99%

“…Several different karyotypes have been described in patients with sex-chromosome DSD presenting with ambiguous genitalia. The most prevalent is 45,X/46,XY, which is usually-though not always-associated with asymmetric gonadal differentiation (41,42,73). 46,XX/46,XY chimeras usually present with ovotesticular DSD.…”

Section: Gonadal Dysgenesis In Sex-chromosome Dsdmentioning

confidence: 99%

Male Hypogonadism and Disorders of Sex Development

2020

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Disorders of Sex Development (DSD) are congenital anomalies in which there is a discordance between chromosomal, genetic, gonadal, and/or internal/external genital sex. In XY individuals, the process of fetal sex differentiation can be disrupted at the stage of gonadal differentiation, resulting in gonadal dysgenesis, a form of early fetal-onset primary hypogonadism characterized by insufficient androgen and anti-Müllerian hormone (AMH) production, which leads to the development of ambiguous or female genitalia. The process of sex differentiation can also be disrupted at the stage of genital differentiation, due to isolated defects in androgen or AMH secretion, but not both. These are forms of fetal-onset hypogonadism with dissociated gonadal dysfunction. In this review, we present a perspective on impaired testicular endocrine function, i.e., fetal-onset male hypogonadism, resulting in incomplete virilization at birth.

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Clinical Findings and Follow-Up of 46,XY and 45,X/46,XY Testicular Dysgenesis

Cited by 19 publications

References 35 publications

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

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

Multidisciplinary Approach to the Child with Sex Chromosomal Mosaicism Including a Y-Containing Cell Line

Male Hypogonadism and Disorders of Sex Development

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