Normal minipuberty of infancy in boys with Prader-Willi syndrome

Fillion, Marc; Deal, Cheri; Vliet, Guy Van

doi:10.1016/j.jpeds.2006.08.077

Cited by 35 publications

(29 citation statements)

References 15 publications

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“…In prepubertal male patients with Prader-Willi syndrome, a specific form of combined central and peripheral hypogonadism, AMH is normal/low, inhibin B is low, FSH is normal/high, and LH and testosterone are normal/low [58,59,60]. Sertoli cell function has not been assessed either in children exposed to total body irradiation during cancer treatment.…”

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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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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“…Boys and adolescents present normal/low AMH, low inhibin B, normal/low testosterone and normal/high FSH and LH (43)(44)(45).…”

Section: Primary Hypogonadism With Germ Cell-specific Dysfunctionmentioning

confidence: 99%

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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“…Fillion et al [16] described 4 boys 35-74 days of age whose LH, FSH, and testosterone levels (mean ± SD) were 4.2 ± 2.1 IU/l, 3.2 ± 1.6 IU/l, and 4.9 ± 2.1 nmol/l, respectively. Eiholzer et al [8] presented data on 1 infant boy in the minipuberty age range whose LH, testosterone, and inhibin B levels were within the normal ranges for age but FSH was above the upper limit of normal.…”

Section: Discussionmentioning

confidence: 99%

“…So, how can one reconcile the normal reproductive hormone levels in infancy with the hypogonadism observed in PWS adolescents and adults? Fillion et al [16] suggested that gradual degeneration of the GnRH neurons in the hypothalamus might explain the loss of gonadal function at a later stage in these patients. However, since hypogonadism in PWS men is mainly due to primary testicular dysfunction and not secondary to gonadotropin deficiency, gradual deterioration of testicular function would be a more accurate explanation for the development of hypogonadism in PWS men.…”

Section: Discussionmentioning

confidence: 99%

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Characterization of Minipuberty in Infants with Prader-Willi Syndrome

Hirsch¹,

Eldar‐Geva

Erlichman

et al. 2014

Horm Res Paediatr

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Background: Minipuberty describes transient activation of the hypothalamic-pituitary-gonadal axis occurring during the first few months of life. Hormone levels during minipuberty were described in only a few Prader-Willi syndrome (PWS) infant boys and have not been reported in PWS infant girls. Objectives: To measure gonadotropins and gonadal hormones in PWS male and female infants and assess gender-specific patterns of hormone secretion. Methods: Hormone levels in 14 (9 male, 5 female) PWS infants ages 1-3 months were compared with reference ranges for normal infants and in 44 prepubertal PWS children (27 female, 17 male). Results: Compared to prepubertal boys, hormone levels (median and range) for PWS infant boys were increased: LH 2.8 mIU/ml (1.2-6.2), FSH 4.4 mIU/ml (1.0-19.5), testosterone 4.0 nmol/l (3.0-7.0), inhibin B 219 pg/ml (141-325), and AMH 79 ng/ml (45-157). Hormone levels in infant girls were not significantly different from levels in prepubertal girls. LH, inhibin B, and AMH were higher in male infants than in female infants. LH/FSH ratios were 0.56 (0.24-1.77) in boys versus 0.09 (0.04-0.17) in girls (p = 0.003). Conclusions: Hormone levels in PWS infant boys are in the expected minipuberty range. By contrast, reproductive hormones in most PWS infant girls did not differ from levels in prepubertal girls.

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Normal minipuberty of infancy in boys with Prader-Willi syndrome

Cited by 35 publications

References 15 publications

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

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

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

Characterization of Minipuberty in Infants with Prader-Willi Syndrome

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