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Published on: October 13, 2018
Characterization of minipuberty in infants with Prader-Willi syndrome
Harry J Hirsch1, Talia Eldar-Geva, Matityahu Erlichman
1Neuropediatric Unit, Shaare Zedek Medical Center, The Hebrew University, Jerusalem, Israel.
Insights
Infant boys with Prader-Willi syndrome (PWS) show expected minipuberty hormone levels, while PWS infant girls do not exhibit these changes. This study clarifies gender-specific hormonal patterns in PWS infants.
Area of Science:
- Pediatric Endocrinology
- Genetics and Genomics
- Reproductive Medicine
Background:
- Minipuberty is a transient activation of the hypothalamic-pituitary-gonadal axis in early infancy.
- Limited data exists on hormone levels during minipuberty in Prader-Willi syndrome (PWS) infant boys and no data for infant girls.
Purpose of the Study:
- To quantify gonadotropins and gonadal hormones in male and female infants with PWS.
- To determine gender-specific patterns of hormone secretion during infancy in PWS.
Main Methods:
- Hormone levels were measured in 14 PWS infants (9 male, 5 female) aged 1-3 months.
- These levels were compared to reference ranges for normal infants and 44 prepubertal PWS children.
Main Results:
- PWS infant boys exhibited elevated levels of LH, FSH, testosterone, inhibin B, and AMH compared to prepubertal boys.
- PWS infant girls' hormone levels were not significantly different from prepubertal girls.
- Male PWS infants had higher LH, inhibin B, and AMH than female infants, with significant differences in LH/FSH ratios.
Conclusions:
- Hormone profiles in PWS infant boys align with the expected range for minipuberty.
- Most PWS infant girls did not display the hormonal changes characteristic of minipuberty.
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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