A longitudinal perspective of hormone replacement therapies (HRTs) on neuromotor capabilities in males with 47,XXY (Klinefelter syndrome)

Samango‐Sprouse, Carole; Brooks, Michaela; Counts, Debra; Hamzik, Mary Pat; Song, Sophia; Powell, Sherida; Sadeghin, Teresa; Gropman, Andrea

doi:10.1016/j.gim.2022.03.004

Cited by 4 publications

(8 citation statements)

References 33 publications

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“…The definition of clinical utility is multifaceted and should not be constrained by an evaluation of whether the performance of screening for SCA reduces the rate of livebirths 28,29 . There is compelling evidence to support the diagnosis of SCA using cfDNA to allow for targeted intervention; multiple studies have documented improved outcome for individuals with both 45,X and the various sex chromosome trisomies when they are ascertained early 30–34 .…”

Section: Discussionmentioning

confidence: 99%

“…The deleterious effects of delay in diagnosis for individuals with sex chromosome trisomies are well documented 27,[31][32][33] . The potential for early intervention to modify the neurodevelopmental and behavioral phenotype is well-described and continues to broaden for sex chromosome trisomies 34,40,41 .…”

Section: Discussionmentioning

confidence: 99%

“…Table 1 Incidence of sex chromosome aneuploidies per number of live births during three defined time periods, according to indication for invasive prenatal diagnostic testing studies have documented improved outcome for individuals with both 45,X and the various sex chromosome trisomies when they are ascertained early [30][31][32][33][34] . The phenotypic differences observed in individuals with 45,X are highly dependent upon the method and timing of ascertainment.…”

Section: Discussionmentioning

confidence: 99%

“…Specifically, the prenatal diagnosis of 47,XXY allows for the discussion of early hormonal treatment with testosterone during minipuberty. Recent research has revealed the significant association between early hormonal treatment and positive neurodevelopmental outcome 31,33 .…”

Section: Discussionmentioning

confidence: 99%

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Incidence of sex chromosome aneuploidy in a prenatal population: 27‐year longitudinal study in Northern Italy

Samango-Sprouse

Grati²,

Brooks³

et al. 2023

Ultrasound in Obstet & Gyne

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What are the novel findings of this work?This longitudinal, population-based study demonstrates that the rate of diagnostic invasive prenatal testing has decreased, while the prenatal diagnosis of sex chromosome aneuploidy (SCA) has increased. Based upon reported indications for diagnostic prenatal testing, the increase in prenatal ascertainment of SCA has been influenced by the availability of cell-free (cf) DNA. What are the clinical implications of this work?Without a sensitive prenatal screening tool, diagnosis of SCA, particularly in infancy, is challenging due to the paucity of physical findings and non-specific behavioral symptoms. Including SCA in prenatal cfDNA screening will result in the earlier identification of affected individuals and improve outcome.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Incidence of sex chromosome aneuploidy in a prenatal population: 27‐year longitudinal study in Northern Italy

Samango-Sprouse

Grati²,

Brooks³

et al. 2023

Ultrasound in Obstet & Gyne

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“…EHT includes three injections, once per month, of 25 mg of testosterone enanthate between two and twenty-four weeks of age, while HBT consists of three injections, once monthly, of 50 mg of testosterone enanthate between five and eight years old [16,17]. Though not a direct focus of this study, hormonal replacement therapy has been associated with improving the overall neurodevelopment of boys with 47,XXY, including cognitive development, expressive and receptive language development, motor development, and working memory skills [16][17][18][19].…”

Section: Introductionmentioning

confidence: 99%

The Effect of Hormonal Therapy on the Behavioral Outcomes in 47,XXY (Klinefelter Syndrome) between 7 and 12 Years of Age

Hamzik¹,

Gropman

Brooks³

et al. 2023

Genes

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47,XXY, also known as Klinefelter syndrome, is the most commonly occurring sex chromosomal aneuploidy (SCA). Hormonal replacement therapy (HRT) has been associated with improved neurodevelopmental capabilities in boys with 47,XXY, although studies investigating HRT’s possible positive effect on behavioral outcomes are scarce. This study explores the association between behavioral outcomes and HRT in boys ages 7–12. Patients were divided into 4 groups based on HRT status: untreated, early hormonal treatment (EHT), hormonal booster therapy (HBT), and both EHT and HBT. Analysis of Variance (ANOVA) and Kruskal–Wallis tests were conducted to determine group differences on the Child Behavior Checklist (CBCL) and the Behavior Rating Inventory of Executive Function (BRIEF). The treated groups were found to have better scores in emotional control, initiative, organization of materials, behavioral rating index, metacognition index, and global executive composite than the untreated group on the BRIEF. On the CBCL, the treated groups presented better scores for somatic complaints, social problems, thought problems, attention problems, aggressive behavior, internalizing problems, total problems, affective problems, somatic problems, ADHD problems, oppositional defiant problems, and sluggish problems in comparison to the untreated group. These results offer evidence that HRT, specifically the combination of both EHT and HBT, may be successful in mitigating some undesirable behavioral outcomes. Further research is necessary to determine the efficacy of the combination of EHT and HBT regarding dosage, specific ages, and long-term benefits.

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Hormone Therapy During Infancy or Early Childhood for Patients with Hypogonadotropic Hypogonadism, Klinefelter or Turner Syndrome

Fiot,

Léger,

Martinerie

2024

Endocrinology and Metabolism Clinics of North America

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A longitudinal perspective of hormone replacement therapies (HRTs) on neuromotor capabilities in males with 47,XXY (Klinefelter syndrome)

Cited by 4 publications

References 33 publications

Incidence of sex chromosome aneuploidy in a prenatal population: 27‐year longitudinal study in Northern Italy

Incidence of sex chromosome aneuploidy in a prenatal population: 27‐year longitudinal study in Northern Italy

The Effect of Hormonal Therapy on the Behavioral Outcomes in 47,XXY (Klinefelter Syndrome) between 7 and 12 Years of Age

Hormone Therapy During Infancy or Early Childhood for Patients with Hypogonadotropic Hypogonadism, Klinefelter or Turner Syndrome

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