Positive effects of short course androgen therapy on the neurodevelopmental outcome in boys with 47,XXY syndrome at 36 and 72 months of age

Abstract

The effects of early androgen treatment on neurodevelopmental performance in pre-pubertal boys with 47,XXY have not been well investigated. The influence of hormones on brain development in humans suggests that a positive effect on neurodevelopmental outcome in young boys with XXY may be plausible with hormone replacement therapy. The aim of the study was to investigate retrospectively if an early course of androgen treatment (three injections of testosterone enanthate, 25 mg, each) had an impact on specific domains of neurodevelopmental function in boys with 47,XXY at 36 and 72 months of age. One hundred one boys with a karyotype of 47,XXY had neurodevelopmental assessments. The retrospective chart review resulted in one group (n = 34) who had received androgen treatment during infancy and the second group was untreated (N = 67). Statistical analysis was completed to determine if there was a positive effect from treatment observed at 36 and at 72 months on multiple domains of development. There were significant differences in multiple cognitive domains in the group who received androgen treatment, including multiple measures of language, intellectual, and neuromotor skills. Improved function was observed in neurodevelopmental outcome in boys with 47,XXY at 36 and 72 months who had been treated with a short course of androgen treatment in infancy. Continued research is underway to expand our understanding of the relationship of androgen, brain function, and neurobehavioral and neurodevelopmental outcome in boys with 47,XXY.

Non‐invasive risk assessment of fetal sex chromosome aneuploidy through directed analysis and incorporation of fetal fraction

“…Accurate risk assessment for trisomies 21,18, and 13 with a directed approach (DANSR TM ) combined with an algorithm (FORTE TM ) that accounts for a priori risk factors and fetal fraction has been previously demonstrated. [1][2][3] This same approach may also be applicable to the evaluation of chromosomes X and Y.…”

“…14 Recent research suggests that there may be advantages to hormone therapy for Turner and Klinefelter syndrome, along with cryopreservation of gametes for individuals with these conditions that may desire a natural conception, but the implementation of these treatment options is not dependent upon prenatal diagnosis. 20,21 As such, NIPT with evaluation of SCA may be best utilized in cases where a clinical indication such as an ultrasound finding or family history is present. The literature does suggest that there is patient interest in prenatal SCA assessment and that it may be a factor in decisions regarding continuation of pregnancy.…”

Pre-pubertal diagnosis of Klinefelter syndrome due to peno-scrotal malformations; Case report and review of literature

“…17 Androgen deficiency can be a cause of psychosexual underdevelopment in these patients 18 and early prepubertal management with androgen can significantly improve their neurodevelopmental outcome. 17 Following the standard recommendations of karyotyping according to Chicago Conesus Conference on Disorders of Sexual Differentiations can help in early diagnosis and management of Klinefelter patients whom are often undiagnosed before puberty.…”

Gender dysphoria in an adolescent diagnosed with Klinefelter syndrome over a follow-up period

“…Testosterone treatment of Klinefelter syndrome has been shown as positively effective on symptoms of patients affected, although its mechanisms not clearly proved [19]. Testosterone treatment has been reported that it developed and improved the functions of neuromotor, speech, cognitive and reading skills [20]. Testosterone treatment has a positive effect on some features including sleep pattern, mood and irritability symptoms [21].…”