Measurements of Serum Müllerian Inhibiting Substance in the Evaluation of Children with Nonpalpable Gonads

Lee, Marv M.; Donahoe, Patricia K.; Silverman, Bernard L.; Hasegawa, Tomonobu; Hasegawa, Yukihiro; Gustafson, Michael L.; Chang, Yu Chiao; MacLaughlin, David T.

doi:10.1056/nejm199705223362102

Cited by 171 publications

(82 citation statements)

References 29 publications

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“…During childhood, these basal levels may also be high, indicating bilateral testicular failure, but they are more often normal [3, 5], as was the case in patient 2 at 5.5 years of age. The measurement of plasma AMH has been proposed as a relatively sensitive and specific assay to distinguish anorchia from normal and abnormal cryptorchid testicles even during childhood [6, 7]. Plasma inhibin B levels can also reliably predict pre-pubertal testicular function and can clearly discriminate anorchia from other testicular disorders and from normal cryptorchid testes [8, 9].…”

Section: Discussionmentioning

confidence: 99%

Lost and Found Testes: The Importance of the hCG Stimulation Test and Other Testicular Markers to Confirm a Surgical Declaration of Anorchia

McEachern¹,

Houle

Garel

et al. 2004

Horm Res Paediatr

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Background: In patients with impalpable testes,laparoscopy or open surgery is considered conclusive in establishing the absence of testicular tissue. Methods: Retrospective chart review. Results: Over a 22-year period, 4 out of 82 patients with a diagnosis of bilateral anorchia by laparoscopy or laparotomy had persistent testicular tissue suggested by endocrine evaluations. The clue to the presence of testicular tissue was: (1) a pubertal rise in plasma testosterone (2 patients); (2) the presence of possible Müllerian structures and of a detectable plasma anti-Müllerian hormone (1 patient), and (3) the fact that one of the gonads had not been seen at surgery (1 patient who still had a testosterone response to hCG postoperatively). Testes were localized by venography (3 patients) and laparotomy (1 patient). Conclusion: A surgical diagnosis of bilateral anorchia needs to be confirmed by hCG stimulation, gonadotropin levels, or other markers of testicular function.

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Section: Discussionmentioning

confidence: 99%

Lost and Found Testes: The Importance of the hCG Stimulation Test and Other Testicular Markers to Confirm a Surgical Declaration of Anorchia

McEachern¹,

Houle

Garel

et al. 2004

Horm Res Paediatr

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“…In such patients, the combination of high gonadotropins, low testosterone levels (even after stimulation), and very low or undetectable levels of anti-Mullerian hormone may preclude any surgical intervention. 19,20 In this specific scenario, we recommend consultation with an endocrinologist to determine the best management on an individual basis since interpretation of these investigations is complex and sometimes inconclusive.…”

Section: Imaging Studiesmentioning

confidence: 99%

Canadian Urological Association-Pediatric Urologists of Canada (CUA-PUC) guideline for the diagnosis, management, and followup of cryptorchidism

Braga

Lorenzo

Romao

2017

CUAJ

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“…In the male, AMH is secreted exclusively by Sertoli cells; therefore, serum AMH reliably reflects the presence and function of testes in prepubertal boys, without the need for any stimulation tests [33,36,37]. …”

Section: Amh Levels In Prepubertal Male Hypogonadismmentioning

confidence: 99%

Anti-Müllerian Hormone and Sertoli Cell Function in Paediatric Male Hypogonadism

2010

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In the prepubertal male, Sertoli cells are the most active testicular cell population. Without stimulation tests, prepubertal hypogonadism can only be evidenced if Sertoli cell function is assessed. Anti-müllerian hormone (AMH) is a distinctive marker of the prepubertal Sertoli cell. Serum AMH is high from fetal life until puberty. In postnatal life, AMH testicular production is stimulated by FSH and potently inhibited by androgens. In anorchid patients, AMH is undetectable. In prepubertal males with fetal- or childhood-onset primary or central hypogonadism affecting the whole gonad, serum AMH is low. Conversely, when hypogonadism only affects Leydig cells (i.e., LH/human chorionic gonadotrophin receptor or steroidogenic enzyme defects), serum AMH is normal/high. AMH is also normal/high in patients with androgen insensitivity. In patients of pubertal age with central hypogonadism, AMH is low for Tanner stage – reflecting lack of FSH stimulus, – but high for age – reflecting lack of testosterone inhibitory effect. FSH treatment results in serum AMH rise, whereas human chorionic gonadotrophin treatment increases testosterone levels which inhibit AMH production. In conclusion, AMH determination is helpful in assessing gonadal function, without need for stimulation tests, and orientates the aetiological diagnosis of paediatric male hypogonadism. Furthermore, serum AMH is an excellent marker of FSH and androgen action in the testis.

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Measurements of Serum Müllerian Inhibiting Substance in the Evaluation of Children with Nonpalpable Gonads

Cited by 171 publications

References 29 publications

Lost and Found Testes: The Importance of the hCG Stimulation Test and Other Testicular Markers to Confirm a Surgical Declaration of Anorchia

Lost and Found Testes: The Importance of the hCG Stimulation Test and Other Testicular Markers to Confirm a Surgical Declaration of Anorchia

Canadian Urological Association-Pediatric Urologists of Canada (CUA-PUC) guideline for the diagnosis, management, and followup of cryptorchidism

Anti-Müllerian Hormone and Sertoli Cell Function in Paediatric Male Hypogonadism

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