Hypogonadism and Cryptorchidism

Rodprasert, Wiwat; Virtanen, Helena E.; Mäkelä, Juho-Antti; Toppari, Jorma

doi:10.3389/fendo.2019.00906

Cited by 104 publications

(88 citation statements)

References 247 publications

(326 reference statements)

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“…(2) Congenital cryptorchidism (undescended testis) is one of the most common congenital urogenital malformations in children and was recently reviewed by Rodprasert et al [140], who reported that the prevalence at birth among children born with normal weight ranges between 1.8% and 8.4%. This condition is associated with a future risk of poor semen quality and an increased risk of developing testicular germ cell tumors and is related to the RXFP2 gene (13q13.1), but as already mentioned, androgens and INSL3 (at 19p13.11) also play a role in the process of testicular descent.…”

Section: Male Ps or Mad Due To Defects In Androgenic Actionmentioning

confidence: 99%

“…However, evidence regarding the benefits of early orchidopexy for testicular endocrine function is controversial, and also hormonal treatments that use hCG or Gonadotropin-Releasing Hormone (GnRH) to induce testicular descent have low success rates. More research is needed to evaluate the effects of hormonal treatments on future male reproductive health [140].…”

Section: Male Ps or Mad Due To Defects In Androgenic Actionmentioning

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: Male Ps or Mad Due To Defects In Androgenic Actionmentioning

confidence: 99%

Section: Male Ps or Mad Due To Defects In Androgenic Actionmentioning

confidence: 99%

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

Acién

2020

JCM

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“…AMH secretion from the fetal Sertoli cells causes regression of the müllerian or paramesonephric ducts and prevents the formation of a uterus and fallopian tubes ( 2 ). Testicular descent is a complex process involving genetic, anatomical, hormonal and environmental factors and conditions affecting any of this factors can cause cryptorchidism ( 3 ). Previous authors have described cases of cryptorchidism associated with CF ( 4 ); Differentiating between cryptorchidism and testicular atrophy is a diagnostic challenge.…”

Section: Discussionmentioning

confidence: 99%

A case of testicular atrophy associated with cystic fibrosis

Profka

Rodari

Giacchetti

et al. 2020

Endocrinology, Diabetes &Amp; Metabolism Case Reports

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Summary An 8-year-old boy with cystic fibrosis came to our attention for an empty scrotum. General physical examination showed a normal penis and hypoplastic scrotum with non-palpable testes bilaterally. Routine blood investigations showed low levels of LH, testosterone, inhibin B and antiMullerian hormone and elevated levels of FSH. Karyotype was normal. An abdominal ultrasound confirmed the absence of the testes into the scrotum, in the inguinal region and abdomen. At laparoscopy were noted bilaterally hypotrophic spermatic vessels, absence of the vas deferens and a closed inner ring. Inguinal exploration found out a small residual testis and histological examination showed fibrotic tissue. This is the first case of testicular atrophy associated to CFTR mutation described. The process that led to bilateral testicular and vas deferens atrophy remains unexplained, a possible influence of CFTR dysfunction cannot be ruled out, although it is possible that these conditions are independently associated. Learning points: Cystic fibrosis produces a multisystemic disease which can affect also the reproductive tract. Nearly 97–98% of male patients are infertile because of congenital bilateral absence of vas deferens. A correlation between cystic fibrosis and bilateral testicular atrophy could be possible.

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“…AGD is considered a marker of endocrine disruption and reproductive disease [63,64]. Tang and colleagues found LC-PCBs to be associated with lower levels of luteinizing hormone and testosterone [58], which are crucial hormones in the process of testicular descent in fetal life [65].…”

Section: Previous Literature and Mechanismsmentioning

confidence: 99%

Maternal Exposure to Airborne Polychlorinated Biphenyls (PCBs) and Risk of Adverse Birth Outcomes

Kofoed

Deen

Hougaard

et al. 2021

Preprint

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Background and aim: Human health effects of airborne lower-chlorinated polychlorinated biphenyls (LC-PCBs) are largely unexplored. Since PCBs may cross the placenta, maternal exposure could potentially have negative consequences for fetal development. We aimed to determine if exposure to airborne PCB during pregnancy was associated with adverse birth outcomes. Methods: In this cohort study, exposed women had lived in PCB contaminated apartments at least one year during the 3.6 years before conception or the entire first trimester of pregnancy. The women and their children were followed for birth outcomes in Danish health registers. Logistic regression was performed to estimate odds ratios (OR) for changes in secondary sex ratio, preterm birth, major congenital malformations, cryptorchidism, being born small for gestational age and birth weight. We performed linear regression to estimate difference in birth weight among children of exposed and unexposed mothers. All models were adjusted for maternal age, educational level, ethnicity, and calendar time. Results: We identified 885 exposed pregnancies and 3327 unexposed pregnancies. Relative to unexposed women, exposed women had OR 0.97 (95% CI 0.82,1.15) for secondary sex ratio, OR 1.13 (95% CI 0.76,1.67) for preterm birth, OR 1.28 (95% CI 0.81,2.01) for having a child with major malformations, OR 1.73 (95% CI 1.01,2.95) for cryptorchidism and OR 1.23 (95% CI 0.88,1.72) for giving birth to a child born small for gestational age. The difference in birth weight for children of exposed compared to unexposed women was -32 g (95% CI -79,14). Conclusion: We observed an increased risk of cryptorchidism among boys after maternal airborne LC-PCB exposure.

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Hypogonadism and Cryptorchidism

Cited by 104 publications

References 247 publications

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

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

A case of testicular atrophy associated with cystic fibrosis

Maternal Exposure to Airborne Polychlorinated Biphenyls (PCBs) and Risk of Adverse Birth Outcomes

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