Adrenarche in Silver-Russell Syndrome: Timing and Consequences

Area of Science:

• Pediatric Endocrinology
• Genetics and Rare Diseases
• Growth and Development

Background:

• Silver-Russell syndrome (SRS) is a rare genetic disorder characterized by intrauterine and postnatal growth retardation.
• Premature adrenarche, the early onset of adrenal androgen production, has been anecdotally reported in SRS, but lacks systematic investigation.
• Understanding the prevalence and predictors of early adrenarche in SRS is crucial for optimizing patient management.

Purpose of the Study:

• To determine the prevalence of early adrenarche in patients with Silver-Russell syndrome.
• To identify potential predictors of early adrenarche in this cohort.
• To assess the consequences of early adrenarche on growth hormone therapy response and adult height.

Main Methods:

• A retrospective longitudinal study was conducted on 62 patients diagnosed with SRS.
• Data on age at adrenarche, pubarche, clinical scores, and recombinant human growth hormone (rhGH) treatment were collected.
• Adrenarche was defined by serum dehydroepiandrosterone levels exceeding 500 ng/mL; statistical analyses identified predictors and outcomes.

Main Results:

• The prevalence of premature adrenarche was 13% in the SRS cohort.
• Early adrenarche was significantly associated with the early initiation of recombinant human growth hormone (rhGH) treatment in both boys and girls (P < 0.05).
• Early adrenarche was not correlated with the Netchine-Harbison clinical score and did not compromise rhGH treatment response or adult height.

Conclusions:

• Early or premature adrenarche is more frequent in individuals with SRS compared to the general population.
• The early onset of adrenarche in SRS is associated with early initiation of rhGH therapy.
• Early adrenarche does not adversely affect the response to rhGH treatment or the achievement of final adult height in patients with SRS.