Low Risk of Impaired Testicular Sertoli and Leydig Cell Functions in Boys with Isolated Hypospadias

Rey, Rodolfo; Codner, Ethel; Íñiguez, Germán; Bedecarrás, Patricia; Trigo, Romina; Okuma, Cecilia; Gottlieb, Silvia; Bergadá, Ignacio; Campo, Stella; Cassorla, Fernando

doi:10.1210/jc.2005-1306

Cited by 80 publications

(77 citation statements)

References 62 publications

(66 reference statements)

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“…In all cases, serum AMH is low or undetectable, according to the amount of testicular tissue remaining (19,27,28). In boys with isolated hypospadias but normal penis size and scrotum and descended testes, AMH and testosterone are normal, indicating that there is no testicular dysfunction (34).…”

Section: Gonadal Dysgenesis Vanishing Testes and Anorchiamentioning

confidence: 96%

New perspectives in the diagnosis of pediatric male hypogonadism: the importance of AMH as a Sertoli cell marker

Grinspon

Rey

2011

Arq Bras Endocrinol Metab

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SUMMARYSertoli cells are the most active cell population in the testis during infancy and childhood. In these periods of life, hypogonadism can only be evidenced without stimulation tests, if Sertoli cell function is assessed. AMH is a useful marker of prepubertal Sertoli cell activity and number. Serum AMH is high from fetal life until mid-puberty. Testicular AMH production increases in response to FSH and is potently inhibited by androgens. Serum AMH is undetectable in anorchidic patients. In primary or central hypogonadism affecting the whole gonad and established in fetal life or childhood, serum AMH is low. Conversely, when hypogonadism affects only Leydig cells (e.g. LHb mutations, LH/CG receptor or steroidogenic enzyme defects), serum AMH is normal or high. In pubertal males with central hypogonadism, AMH is low for Tanner stage (reflecting lack of FSH stimulus), but high for the age (indicating lack of testosterone inhibitory effect). Treatment with FSH provokes an increase in serum AMH, whereas hCG administration increases testosterone levels, which downregulate AMH. In conclusion, assessment of serum AMH is helpful to evaluate gonadal function, without the need for stimulation tests, and guides etiological diagnosis of pediatric male hypogonadism. Furthermore, serum AMH is an excellent marker of FSH and androgen action on the testis. Arq Bras Endocrinol Metab. 2011;55(8):512-9 Keywords Hypogonadotrophic hypogonadism; hypergonadotrophic hypogonadism; testis; anorchia; cryptorchidism; disorders of sex development SUMáRioAs células de Sertoli são a população de células mais ativa nos testículos durante a primeira e segunda infância. Neste período, o hipogonadismo só pode ser evidenciado sem o uso de testes estimulatórios se a função das células de Sertoli for avaliada. O AMH é um marcador útil do nú-mero e da atividade das células de Sertoli no período pré-puberal. A concentração sérica de AMH é alta da metade da vida fetal até a metade da puberdade. A produção de AMH pelos testículos aumenta em resposta ao FSH e é potencialmente inibida por androgênios. O AMH sérico não é detectável em pacientes anorquídicos. No hipogonadismo central ou primário afetando a gônada inteira, ou estabelecido na vida fetal ou infância, a concentração de AMH sérica é baixa. Por outro lado, quando o hipogonadismo afeta apenas as células de Leydig (por exemplo, nas mutações, LHb, defeitos do receptor de LH/CG ou das enzimas esteroidogênicas), a concentração de AMH sé-rico é normal ou alta. Em meninos púberes com hipogonadismo central, a concentração de AMH é baixa para o estágio na escala de Tanner (refletindo a falta de estímulo pelo FSH), mas alta para a idade (indicando a falta do efeito inibidor da testosterona). O tratamento com FSH provoca um aumento do AMH sérico, enquanto a administração de hCG aumenta os níveis de testosterona, que fazem a downregulation do AMH. Em conclusão, a concentração sérica de AMH é útil na avaliação da função gonadal, excluindo a necessidade de testes estimulatórios, e direciona o diagnóstico et...

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Section: Gonadal Dysgenesis Vanishing Testes and Anorchiamentioning

confidence: 96%

New perspectives in the diagnosis of pediatric male hypogonadism: the importance of AMH as a Sertoli cell marker

Grinspon

Rey

2011

Arq Bras Endocrinol Metab

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“…2 Relationship between serum testosterone, androgen receptor (AR) expression in Sertoli cells and serum AMH from birth to puberty. AR expression in Sertoli cells is represented as the percentage of Sertoli cells with AR immunolabelling [data from [28,45]]. …”

Section: Normal Development Of the Hypothalamic-pituitary-testicular mentioning

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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“…We evaluated 5a reductase activity from the testosterone/DHT ratio after hCG stimulation. A high testosterone/DHT ratio was considered predictive of 5a-reductase deficiency and a high basal testosterone concentration after hCG stimulation associated with high basal LH concentration was considered predictive of partial androgen insensitivity syndrome (6,16,17).…”

Section: Methodsmentioning

confidence: 99%

“…Definitive etiological diagnosis is based on the clinical examination and the results of appropriate investigations. However, this disorder remains idiopathic in many cases (5)(6)(7)(8).…”

Section: Introductionmentioning

confidence: 99%

“…Two recent studies have shown that boys and men with hypospadias associated with other features of defective virilization, such as microphallus, cryptorchidism, and bifid scrotum, have a higher risk of impaired testicular function than those with isolated hypospadias (6,10). It is also a matter of concern that small penis size may persist into adulthood, becoming a major cause of dissatisfaction in these patients (8,9,11,12).…”

Section: Introductionmentioning

confidence: 99%

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Testicular function and physical outcome in young adult males diagnosed with idiopathic 46 XY disorders of sex development during childhood

Blanc

Ayedi

El-Ghoneimi

et al. 2011

European Journal of Endocrinology

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Objective: There are few studies of outcome in male patients with undefined 46 XY disorder of sex development (DSD). We aimed to assess testicular function and clinical characteristics after puberty in men with idiopathic 46 XY DSD. Design: We conducted a University Hospital-based observational follow-up study. Methods: Nineteen patients with severe hypospadias associated with other signs of defective virilization, such as microphallus, cryptorchidism, and/or bifid scrotum, who were initially managed during childhood between 1988 and 1994, were evaluated at a median age of 17.6 (16.3; 17.8) years. Outcome measures included clinical findings and serum testosterone, FSH, LH, and inhibin B concentrations. Results: Testicular function was normal in only five (26%) patients. Impaired testicular function was observed in 14 (74%) patients and was partial (nZ6; 32%) or total (nZ8; 42%), requiring testosterone treatment for the initial (nZ2) or secondary (nZ6) induction of puberty. Undescended testis (unilateral nZ3, bilateral nZ2) was found and surgically managed only in the 14 patients with testicular impairment. Testosterone treatment in early childhood greatly increased penis length in all patients, but persistent microphallus following surgical treatment was observed at the end of puberty in most patients, with no difference between patients with and without testicular dysfunction (penis length of 68 (60; 75) vs 65 (60; 65) mm; PZ0.42). Half the patients presented an adult height more than 5 cm below their target height. Conclusion: Men diagnosed with idiopathic 46 XY DSD during childhood are at high risk of testicular insufficiency and persistent micropenis, and this should be taken into account during the follow-up. 165 907-915 European Journal of Endocrinology

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Low Risk of Impaired Testicular Sertoli and Leydig Cell Functions in Boys with Isolated Hypospadias

Abstract: Boys with isolated hypospadias are more likely to have normal endocrine testicular and androgen end-organ functions, suggesting that transient disruption of morphogenetic events in early fetal life may be the predominant underlying cause.

Cited by 80 publications

References 62 publications

New perspectives in the diagnosis of pediatric male hypogonadism: the importance of AMH as a Sertoli cell marker

New perspectives in the diagnosis of pediatric male hypogonadism: the importance of AMH as a Sertoli cell marker

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

Testicular function and physical outcome in young adult males diagnosed with idiopathic 46 XY disorders of sex development during childhood

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