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The FSH-inhibin axis in prader-willi syndrome: heterogeneity of gonadal dysfunction.

Gross-Tsur V, Hirsch HJ, Benarroch F, Eldar-Geva T - Reprod. Biol. Endocrinol. (2012)

Bottom Line: There were 10, 8, 9 and 8 individuals in Groups A-D respectively; significantly more males in group A (9, 4, 4 and 2; P = 0.04).Significant differences between the groups were found in mean testosterone (P = 0.04), AMH (P = 0.003) and pubic hair (P = 0.04) in males and mean LH (P = 0.003) and breast development (P = 0.04) in females.Longitudinal studies are needed to verify whether the individual phenotypes are consistent.

View Article: PubMed Central - HTML - PubMed

Affiliation: Multidisciplinary Prader-Willi Syndrome Clinic, Shaare Zedek Medical Center, Jerusalem, Israel.

ABSTRACT

Background: We characterized the spectrum and etiology of hypogonadism in a cohort of Prader-Willi syndrome (PWS) adolescents and adults.

Methods: Reproductive hormonal profiles and physical examination were performed on 19 males and 16 females ages 16-34 years with PWS. Gonadotropins, sex-steroids, inhibin B (INB) and anti-Mullerian hormone (AMH) were measured. We defined 4 groups according to the relative contribution of central and gonadal dysfunction based on FSH and INB levels: Group A: primary hypogonadism (FSH >15 IU/l and undetectable INB (<10 pg/ml); Group B: central hypogonadism (FSH <0.5 IU/l, INB <10 pg/ml); Group C: partial gonadal & central dysfunction (FSH 1.5-15 IU/l, INB >20 pg/ml); Group D: mild central and severe gonadal dysfunction (FSH 1.5-15 IU/l, INB < 10 pg/ml.

Results: There were 10, 8, 9 and 8 individuals in Groups A-D respectively; significantly more males in group A (9, 4, 4 and 2; P = 0.04). Significant differences between the groups were found in mean testosterone (P = 0.04), AMH (P = 0.003) and pubic hair (P = 0.04) in males and mean LH (P = 0.003) and breast development (P = 0.04) in females. Mean age, height, weight, BMI and the distribution of genetic subtypes were similar within the groups.

Conclusions: Analysis of FSH and inhibin B revealed four distinct phenotypes ranging from primary gonadal to central hypogonadism. Primary gonadal dysfunction was common, while severe gonadotropin deficiency was rare. Longitudinal studies are needed to verify whether the individual phenotypes are consistent.

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Serum levels of LH, FSH, AMH and inhibin B (INB) in the four groups of PWS males and females, serum estradiol levels in females and testosterone levels in males. Group A: primary hypogonadism; Group B: central hypogonadism; Group C: partial gonadal & central dysfunction; Group D: mild central and severe gonadal dysfunction. Criteria for classifying patients in each group according to inhibin B and FSH levels are described in “Results.” The grey bars represent the normal ranges. Among the 4 groups P < 0.0001 for the differences in FSH and INB, P < 0.001 for the differences in LH and P < 0.01 for AMH. Among the males, P < 0.0001, P < 0.03 and P < 0.01 respectively for INB, testosterone and AMH. Among the females, P < 0.001 for INB (ANOVA).
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Figure 1: Serum levels of LH, FSH, AMH and inhibin B (INB) in the four groups of PWS males and females, serum estradiol levels in females and testosterone levels in males. Group A: primary hypogonadism; Group B: central hypogonadism; Group C: partial gonadal & central dysfunction; Group D: mild central and severe gonadal dysfunction. Criteria for classifying patients in each group according to inhibin B and FSH levels are described in “Results.” The grey bars represent the normal ranges. Among the 4 groups P < 0.0001 for the differences in FSH and INB, P < 0.001 for the differences in LH and P < 0.01 for AMH. Among the males, P < 0.0001, P < 0.03 and P < 0.01 respectively for INB, testosterone and AMH. Among the females, P < 0.001 for INB (ANOVA).

Mentions: Analysis of FSH and INB levels in the groups we defined, revealed highly significant differences among the 4 groups for both males (P < 0.0001, ANOVA), and females (P < 0.0001 and P < 0.001 for FSH and INB respectively) (Figure 1), as expected for the study design. Similar differences in LH levels were found between the groups (P < 0.001), however, the levels were within the normal range in most individuals except for those in group B who had very low levels of both FSH and LH.


The FSH-inhibin axis in prader-willi syndrome: heterogeneity of gonadal dysfunction.

Gross-Tsur V, Hirsch HJ, Benarroch F, Eldar-Geva T - Reprod. Biol. Endocrinol. (2012)

Serum levels of LH, FSH, AMH and inhibin B (INB) in the four groups of PWS males and females, serum estradiol levels in females and testosterone levels in males. Group A: primary hypogonadism; Group B: central hypogonadism; Group C: partial gonadal & central dysfunction; Group D: mild central and severe gonadal dysfunction. Criteria for classifying patients in each group according to inhibin B and FSH levels are described in “Results.” The grey bars represent the normal ranges. Among the 4 groups P < 0.0001 for the differences in FSH and INB, P < 0.001 for the differences in LH and P < 0.01 for AMH. Among the males, P < 0.0001, P < 0.03 and P < 0.01 respectively for INB, testosterone and AMH. Among the females, P < 0.001 for INB (ANOVA).
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3472203&req=5

Figure 1: Serum levels of LH, FSH, AMH and inhibin B (INB) in the four groups of PWS males and females, serum estradiol levels in females and testosterone levels in males. Group A: primary hypogonadism; Group B: central hypogonadism; Group C: partial gonadal & central dysfunction; Group D: mild central and severe gonadal dysfunction. Criteria for classifying patients in each group according to inhibin B and FSH levels are described in “Results.” The grey bars represent the normal ranges. Among the 4 groups P < 0.0001 for the differences in FSH and INB, P < 0.001 for the differences in LH and P < 0.01 for AMH. Among the males, P < 0.0001, P < 0.03 and P < 0.01 respectively for INB, testosterone and AMH. Among the females, P < 0.001 for INB (ANOVA).
Mentions: Analysis of FSH and INB levels in the groups we defined, revealed highly significant differences among the 4 groups for both males (P < 0.0001, ANOVA), and females (P < 0.0001 and P < 0.001 for FSH and INB respectively) (Figure 1), as expected for the study design. Similar differences in LH levels were found between the groups (P < 0.001), however, the levels were within the normal range in most individuals except for those in group B who had very low levels of both FSH and LH.

Bottom Line: There were 10, 8, 9 and 8 individuals in Groups A-D respectively; significantly more males in group A (9, 4, 4 and 2; P = 0.04).Significant differences between the groups were found in mean testosterone (P = 0.04), AMH (P = 0.003) and pubic hair (P = 0.04) in males and mean LH (P = 0.003) and breast development (P = 0.04) in females.Longitudinal studies are needed to verify whether the individual phenotypes are consistent.

View Article: PubMed Central - HTML - PubMed

Affiliation: Multidisciplinary Prader-Willi Syndrome Clinic, Shaare Zedek Medical Center, Jerusalem, Israel.

ABSTRACT

Background: We characterized the spectrum and etiology of hypogonadism in a cohort of Prader-Willi syndrome (PWS) adolescents and adults.

Methods: Reproductive hormonal profiles and physical examination were performed on 19 males and 16 females ages 16-34 years with PWS. Gonadotropins, sex-steroids, inhibin B (INB) and anti-Mullerian hormone (AMH) were measured. We defined 4 groups according to the relative contribution of central and gonadal dysfunction based on FSH and INB levels: Group A: primary hypogonadism (FSH >15 IU/l and undetectable INB (<10 pg/ml); Group B: central hypogonadism (FSH <0.5 IU/l, INB <10 pg/ml); Group C: partial gonadal & central dysfunction (FSH 1.5-15 IU/l, INB >20 pg/ml); Group D: mild central and severe gonadal dysfunction (FSH 1.5-15 IU/l, INB < 10 pg/ml.

Results: There were 10, 8, 9 and 8 individuals in Groups A-D respectively; significantly more males in group A (9, 4, 4 and 2; P = 0.04). Significant differences between the groups were found in mean testosterone (P = 0.04), AMH (P = 0.003) and pubic hair (P = 0.04) in males and mean LH (P = 0.003) and breast development (P = 0.04) in females. Mean age, height, weight, BMI and the distribution of genetic subtypes were similar within the groups.

Conclusions: Analysis of FSH and inhibin B revealed four distinct phenotypes ranging from primary gonadal to central hypogonadism. Primary gonadal dysfunction was common, while severe gonadotropin deficiency was rare. Longitudinal studies are needed to verify whether the individual phenotypes are consistent.

Show MeSH
Related in: MedlinePlus