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Effects of Early Androgen Therapy on Infant Temperment in Males with 47,XXY

Clinical Genetics and Therapeutics
  • Primary Categories:
    • Clinical Genetics
  • Secondary Categories:
    • Clinical Genetics
Introduction:
47,XXY occurs in approximately 1 in 650 male births and is associated with androgen deficiency, neurodevelopmental differences, and passive temperament in infancy. Specifically, babies with 47,XXY are described as quiet and slow to arouse, as well as shy and timid. This study investigated the relationship between early androgen therapy (EHT) and infant temperament changes in males with 47,XXY.

Methods:
The study consisted of infants diagnosed with 47,XXY who were referred for neurodevelopmental evaluations. Males were aggregated into groups according to age and EHT status. Temperament was assessed using the Carey Early Infancy Temperament Questionnaire for 1-2 Month Infants and 3-4 Month Infants, the Carey Revised Infant Temperament Questionnaire for 4-11 Month Infants, and the Carey Toddler Temperament Scale for 12-23 Month Children. Temperament construct scores were averaged and analyzed for significant differences against available neurotypical scores.

Results:
In 1-2 months untreated male infants (n = 43), significant differences were identified in approach (p = .04, d = -0.33), adaptability (p = .01, d = -0.42), mood (p = .01, d = -0.42), persistence (p = .02, d = -0.39), and distractibility (p < .001, d = -1.25). In the 3–4-month untreated sample (n = 24), significant differences were revealed in approach (p < .001), adaptability (p < .01, d = -0.63), and distractibility (p < .001, d = -1.29). In the 5–11-month untreated sample (n = 22), a significant difference was documented  in distractibility (p = .02, d=-0.53). In the 12–23-month untreated sample (n = 37), significant differences were identified in activity (p = .01, d = -0.44), adaptability (p = .01, d = -0.48), intensity (p = .01, d = -0.45), and persistence (p < .001. d = .98). 

The untreated sample is consistent with the reported temperament profile, where infants with 47,XXY were more pleasant, more distractible, less intense, less persistent, and less active than neurotypical peers. Medium and large effect sizes were observed when untreated males differed from neurotypical peers (0.33 ≤ d ≤ 1.29).

When treated infants with 47,XXY were analyzed, their temperament approached neurotypical infants. In the 1-2 month treated sample (n = 6), a significant difference was only found in distractibility (p = .001, d = -2.69). In the 3-4 months treated sample (n = 8), significant differences were only found in approach ( p =   .05, d = -0.84), and intensity (p = .02, d = -1.10). In the 5-11 month treated sample (n = 54), a significant difference was only found in threshold (p = .03, d = -0.30). In 12-23 months treated sample (n = 78), significant differences were found in activity (p = .01, d = -0.32), rhythmicity (p = .002, d = -0.36), adaptability (p = .005, d = -0.33), persistence (p = .01, d = 0.30), and distractibility (p = .01. d = -0.28).

The treated sample is less consistent with the associated 47,XXY temperament profile and more reflective of neurotypical infants. These testosterone-treated males remained distractable, yet exhibited more neurotypical temperaments, having approachability, persistence, intensity, and mood patterns that rivaled neurotypical peers. Small effect sizes were observed when treated males differed from neurotypical peers (d ≤ 0.36).

Conclusion:
This study is the first to reveal associations between EHT and temperament changes in infants with 47,XXY. Specifically, EHT may foster more typical neurodevelopment, thus awakening alerting mechanisms and encouraging state changes in developing infants with 47,XXY. Distractibility scores remained stable across treatment status, perhaps acting as a precursor to executive dysfunction secondary to documented frontal lobe abnormalities. More research is needed to investigate the relationship between EHT, neurodevelopment, and temperament changes in this population.

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