Klinefelter syndrome: fertility considerations and gaps in knowledge

Nahata, Leena; Yu, Richard N.; Cohen, Laurie E.

doi:10.21037/tp.2016.06.06

Cited by 2 publications

(3 citation statements)

References 11 publications

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“…There are still many knowledge gaps in KS patients and fertility preservation. 21,25,28,30 Studies are small. The potential impact of prior testosterone therapy on sperm retrieval is not well documented.…”

Section: Discussionmentioning

confidence: 99%

“…The potential impact of prior testosterone therapy on sperm retrieval is not well documented. 28 Prospective studies have been limited due to he rarity of the disease 25 Unanswered are questions about the viability and quality of sperm retrieved from this patient population after many years of freezing 30 Data from offspring of KS patients are lacking. Although KS is not an inherited, disease, these would be very interesting.…”

Section: Discussionmentioning

confidence: 99%

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Klinefelter syndrome and fertility preservation

AB Naafs

2019

MOJPH

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In this mini-review pathophysiology, symptoms, diagnosis and management of Klinefelter syndrome (KS) patients are discussed, including fertility preservation. The real complete spectrum of KS phenotypes remain still to be fully elucidated. Hypogonadism and infertility are almost invariably present. Almost all organs of KS patients are associated with increased risk of morbidity and mortality. Treatment is multidisciplinary for associated speech, language, learning and neurocognitive difficulties. Pharmacologic treatment is by topical or i.m administration of testosterone replacement therapy (TTR).The effect of TTR on compromised spermatogenesis is not well known. In this millennium fertility preservation by testes sperm extraction (TESE) via biopsies and fathering by subsequent intra cytoplasmc sperm injection (ICIS) has become possible with some 60% success rate in small studies. However, offspring data of KS patients are lacking and many knowledge gaps still exist.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Klinefelter syndrome and fertility preservation

AB Naafs

2019

MOJPH

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“…Indeed, a number of studies have shown that success rates are higher in individuals younger than 35 [24]. However, performing TESE in adolescents or young men in their early twenties does not further increase retrieval rates [25,26]. A recent meta-analysis of 1248 patients with a mean age 30.9 AE 5.6 years failed to document an effect of age on sperm recovery [21 && ].…”

Section: Fertility Preservationmentioning

confidence: 99%

Endocrine aspects of Klinefelter syndrome

Lizarazo

McLoughlin

Vogiatzi

2019

Current Opinion in Endocrinology, Diabetes &Amp; Obesity

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Purpose of reviewKlinefelter syndrome is the most common sex chromosome abnormality in men. Hypogonadism and testicular degeneration are almost universal. Truncal adiposity, metabolic syndrome and low bone mass occur frequently. This review summarizes the most recent advances in the pathogenesis and management of the endocrine abnormalities in Klinefelter syndrome. It is expected that optimal endocrine management will improve outcomes and quality of life in Klinefelter syndrome. Recent findingsIn Klinefelter syndrome, testosterone replacement is routinely prescribed despite lack of evidence on the optimal dose and time for initiation of therapy. Cross-sectional studies have linked hypogonadism to the development of metabolic abnormalities and low bone mass. Testosterone therapy, however, is not consistently associated with improved metabolic and bone outcomes. Increased truncal adiposity and high rates of metabolic syndrome are present in prepubertal children. A randomized trial of oxandrolone in prepubertal boys showed improvement in visual-motor function, socialization and cardiometabolic health. Testicular sperm extraction (TESE) has success rates similar to other causes of nonobstructive azoospermia when performed between 16 and 35 years of age. SummaryEndocrine care in Klinefelter syndrome should start in childhood and include evaluation of metabolic risk factors and bone health. Further research to guide evidence-based endocrine care is very much needed.

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Klinefelter syndrome: fertility considerations and gaps in knowledge

Cited by 2 publications

References 11 publications

Klinefelter syndrome and fertility preservation

Klinefelter syndrome and fertility preservation

Endocrine aspects of Klinefelter syndrome

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