Minipuberty in Klinefelter syndrome: Current status and future directions

Aksglæde, Lise; Davis, Shanlee; Ross, Judith L.; Juul, Anders

doi:10.1002/ajmg.c.31794

Cited by 18 publications

(16 citation statements)

References 72 publications

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“…61 Endocrine evaluation of the testicular function before puberty is challenged by very low concentrations of testosterone and low sensitivity of the generally available hormone-assays. Therefore, only very limited conflicting data exist 62 (also see 4.2.4).…”

Section: Values and Remarksmentioning

confidence: 99%

European academy of andrology guidelines on Klinefelter Syndrome Endorsing Organization: European Society of Endocrinology

et al. 2020

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Background Knowledge about Klinefelter syndrome (KS) has increased substantially since its first description almost 80 years ago. A variety of treatment options concerning the spectrum of symptoms associated with KS exists, also regarding aspects beyond testicular dysfunction. Nevertheless, the diagnostic rate is still low in relation to prevalence and no international guidelines are available for KS. Objective To create the first European Academy of Andrology (EAA) guidelines on KS. Methods An expert group of academicians appointed by the EAA generated a consensus guideline according to the GRADE (Grading of Recommendations, Assessment, Development and Evaluation) system. Results Clinical features are highly variable among patients with KS, although common characteristics are severely attenuated spermatogenesis and Leydig cell impairment, resulting in azoospermia and hypergonadotropic hypogonadism. In addition, various manifestations of neurocognitive and psychosocial phenotypes have been described as well as an increased prevalence of adverse cardiovascular, metabolic and bone‐related conditions which might explain the increased morbidity/mortality in KS. Moreover, compared to the general male population, a higher prevalence of dental, coagulation and autoimmune disorders is likely to exist in patients with KS. Both genetic and epigenetic effects due to the supernumerary X chromosome as well as testosterone deficiency contribute to this pathological pattern. The majority of patients with KS is diagnosed during adulthood, but symptoms can already become obvious during infancy, childhood or adolescence. The paediatric and juvenile patients with KS require specific attention regarding their development and fertility. Conclusion These guidelines provide recommendations and suggestions to care for patients with KS in various developmental stages ranging from childhood and adolescence to adulthood. This advice is based on recent research data and respective evaluations as well as validations performed by a group of experts.

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Section: Values and Remarksmentioning

confidence: 99%

European academy of andrology guidelines on Klinefelter Syndrome Endorsing Organization: European Society of Endocrinology

et al. 2020

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“…The infant activation of the HPG hormone axis is silenced from the age of 3-6 months until reactivation at the onset of puberty. Therefore, these first months of life provide a window of opportunity for investigating the HPG hormone axis (13,14,15). The analysis of basal gonadotropin and gonadal hormones at the age of 1-3 months of life is helpful when investigating infants with suspected central or primary hypogonadism.…”

Section: Mini-pubertymentioning

confidence: 99%

Pubertal induction and transition to adult sex hormone replacement in patients with congenital pituitary or gonadal reproductive hormone deficiency: an Endo-ERN clinical practice guideline

Nordenström

Ahmed

Akker

et al. 2022

European Journal of Endocrinology

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An Endo-European Reference Network (ERN) guideline initiative was launched including 16 clinicians experienced in endocrinology, pediatric and adult, and 2 patient representatives. The guideline was endorsed by the European Society for Pediatric Endocrinology, the European Society for Endocrinology and the European Academy of Andrology. The aim was to create practice guidelines for clinical assessment and puberty induction in individuals with congenital pituitary or gonadal hormone deficiency. A systematic literature search was conducted and the evidence graded according to Grading of Recommendations, Assessment, Development and Evaluation system. When evidence was insufficient or lacking, conclusions were based on expert opinion. The guideline includes recommendations for puberty induction with oestrogen or testosterone. Publications on induction of puberty with FSH and hCG in hypogonadotrophic hypogonadism are reviewed. Specific issues in individuals with Klinefelter syndrome or androgen insensitivity syndrome are considered. The expert panel recommend that pubertal induction or sex hormone replacement to sustain puberty should be treated by a multidisciplinary team. Children with a known condition should be followed from the age of 8 years for girls and 9 years for boys. Puberty induction should be individualized but considered at 11 years in girls and 12 years in boys. Psychological aspects of puberty and fertility issues are especially important to address in individuals with a disorder of sex development or congenital pituitary deficiencies. Transition of these young adults highlights the importance of a multidisciplinary approach, to discuss both medical issues and social and psychological issues that arise in the context of these chronic conditions.

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“…Hypogonadism in KS may start as early as fetal life or infancy due to the higher prevalence of underdeveloped genitalia and cryptorchidism, reduced germ cell number on testicular biopsies, and smaller testicular size, and studies have also suggested a blunted testosterone surge during mini-puberty and an increase in gonadotropins over the first 2–3 months of infancy 7 8. However, due to lack of general understanding about mini-puberty in infants, it is unclear if any hypogonadism in boys with KS has management implications.…”

Section: Infancy and Early Childhoodmentioning

confidence: 99%

Klinefelter syndrome: going beyond the diagnosis

et al. 2022

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Although Klinefelter syndrome (KS) is common, it is rarely recognised in childhood, sometimes being identified with speech or developmental delay or incidental antenatal diagnosis. The only regular feature is testicular dysfunction. Postnatal gonadotropin surge (mini-puberty) may be lower, but treatment with testosterone needs prospective studies. The onset of puberty is at the normal age and biochemical hypogonadism does not typically occur until late puberty. Testosterone supplementation can be considered then or earlier for clinical hypogonadism. The size at birth is normal, but growth acceleration is more rapid in early and mid-childhood, with adult height greater than mid-parental height. Extreme tall stature is unusual. The incidence of adolescent gynaecomastia (35.6%) is not increased compared with typically developing boys and can be reduced or resolved by testosterone supplementation, potentially preventing the need for surgery. Around two-thirds require speech and language therapy or developmental support and early institution of therapy is important. Provision of psychological support may be helpful in ameliorating these experiences and provide opportunities to develop strategies to recognise, process and express feelings and thoughts. Boys with KS are at increased risk of impairment in social cognition and less accurate perceptions of social emotional cues. The concept of likely fertility problems needs introduction alongside regular reviews of puberty and sexual function in adolescents. Although there is now greater success in harvesting sperm through techniques such as testicular sperm extraction, it is more successful in later than in early adolescence. In vitro maturation of germ cells is still experimental.

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Minipuberty in Klinefelter syndrome: Current status and future directions

Cited by 18 publications

References 72 publications

European academy of andrology guidelines on Klinefelter Syndrome Endorsing Organization: European Society of Endocrinology

European academy of andrology guidelines on Klinefelter Syndrome Endorsing Organization: European Society of Endocrinology

Pubertal induction and transition to adult sex hormone replacement in patients with congenital pituitary or gonadal reproductive hormone deficiency: an Endo-ERN clinical practice guideline

Klinefelter syndrome: going beyond the diagnosis

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