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

McEachern, Rebecca; Houle, Anne‐Marie; Garel, Laurent; Vliet, Guy Van

doi:10.1159/000080018

Cited by 17 publications

(13 citation statements)

References 44 publications

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“…In particular, this test is done to assess the presence and the secretory ability of testicular tissues, playing a pivotal role in the diagnostic of bilateral congenital anorchia. Measurements of inhibin B and AMH have also proven value in prepubertal patients, in which gonadotropin levels are low after the first six months of life (14). In our patient, the hCG test demonstrated a lack of testosterone response, confirming the absence of both testes.…”

Section: Discussionsupporting

confidence: 62%

bilateral anorchia

Valea¹

2009

Acta Endo (Buc)

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Anorchia is a syndrome characterized by unilateral or bilateral absence of testicular tissue. At puberty, growth and development are normal but secondary sexual development fails to occur if anorchia is bilateral.We present the case of a 21 year-old male with a late diagnosis of bilateral anorchia. The diagnosis was suggested by a bilateral empty scrotum, in a patient with male phenotype and poor secondary sexual development and established by karyotype analysis, hormonal profile and surgical exploration. The lack of testosterone response to hCG stimulation is the hormonal hallmark of bilateral congenital anorchia. In the absence of any information about germinal cell presence, bilateral excision of the testicular nubbins, implantation of testicular prostheses and hormonal replacement therapy were indicated.

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Section: Discussionsupporting

confidence: 62%

bilateral anorchia

Valea¹

2009

Acta Endo (Buc)

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“…Thus, the cryptorchidism that was present in 3 of our patients probably resulted from decreased intra-abdominal pressure during fetal life, as seen in boys with abdominal wall defects. 8 Our findings further suggest that there may be different mechanisms for the infantile and pubertal activation of the hypothalamo-pituitary-gonadal axis.…”

Section: Discussionmentioning

confidence: 53%

Normal minipuberty of infancy in boys with Prader-Willi syndrome

Fillion

Deal

Vliet

2006

The Journal of Pediatrics

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“…These patients may present with non-palpable gonads. Undetectable serum AMH could be interpreted as a sign of anorchia; however, detectable serum inhibin B and testosterone increase after hCG stimulation are indicative of the existence of intra-abdominal testes ( 42,62 ).…”

Section: Primary Hypogonadism With "Dissociated Testicular Dysfunction"mentioning

confidence: 99%

Sertoli cell markers in the diagnosis of paediatric male hypogonadism

Grinspon

Loreti²,

Braslavsky³

et al. 2012

Journal of Pediatric Endocrinology and Metabolism

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During childhood, the pituitary-testicular axis is partially dormant: testosterone secretion decreases following a drop in luteinising hormone levels; follicle-stimulating hormone (FSH) levels also go down. Conversely, Sertoli cells are most active, as revealed by the circulating levels of anti-Müllerian hormone (AMH) and inhibin B. Therefore, hypogonadism can best be evidenced, without stimulation tests, if Sertoli cell function is assessed. Serum AMH is high from fetal life until mid-puberty. Testicular AMH production increases in response to FSH and is potently inhibited by androgens. Inhibin B is high in the first years of life, then decreases partially while remaining clearly higher than in females, and increases again at puberty. Serum AMH and inhibin B are undetectable in anorchid patients. In primary or central hypogonadism affecting the whole gonad established in fetal life or childhood, all testicular markers are low. Conversely, when hypogonadism only affects Leydig cells, serum AMH and inhibin B are normal. In males of pubertal age with central hypogonadism, AMH and inhibin B are low. Treatment with FSH provokes an increase in serum levels of both Sertoli cell markers, whereas human chorionic gonadotrophin (hCG) administration increases testosterone levels. In conclusion, measurement of serum AMH and inhibin B is helpful in assessing testicular function, without need for stimulation tests, and orientates the aetiological diagnosis of paediatric male hypogonadism.

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

Cited by 17 publications

References 44 publications

bilateral anorchia

bilateral anorchia

Normal minipuberty of infancy in boys with Prader-Willi syndrome

Sertoli cell markers in the diagnosis of paediatric male hypogonadism

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