The feasibility of fertility preservation in adolescents with Klinefelter syndrome

Rives, Nathalie; Milazzo, Jean-Pierre; Perdrix, A.; Castanet, Mireille; Sibert, L.; Bironneau, A.; Way, A.; Macé, Bertrand

doi:10.1093/humrep/det084

Cited by 88 publications

(61 citation statements)

References 46 publications

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“…These have already been extensively reviewed elsewhere (63,64) but in essence relate to the following issues. First, although the techniques, success rates and general availability for testicular biopsy (or microdissection), sperm retrieval and sperm cryopreservation are continually advancing, this is counterbalanced by the rate of progressive seminiferous tubule degeneration occurring in the patients themselves.…”

Section: Male Hypergonadotrophic Hypogonadismmentioning

confidence: 99%

TRANSITION IN ENDOCRINOLOGY: Induction of puberty

Dunkel

Quinton

2014

European Journal of Endocrinology

117

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Puberty is the period during which we attain adult secondary sexual characteristics and reproductive capability. Its onset depends upon reactivation of pulsative GNRH, secretion from its relative quiescence during childhood, on the background of intact potential for pituitary-gonadal function. This review is intended: to highlight those current practices in diagnosis and management that are evidence based and those that are not; to help clinicians deal with areas of uncertainty with reference to physiologic first principles; by sign-posting relevant data arising from other patient groups with shared issues; to illustrate how recent scientific advances are (or should be) altering clinician perceptions of pubertal delay; and finally, to emphasise that the management of men and women presenting in advanced adult life with absent puberty cannot simply be extrapolated from paediatric practice. There is a broad spectrum of pubertal timing that varies among different populations, separated in time and space. Delayed puberty usually represents an extreme of the normal, a developmental pattern referred to as constitutional delay of growth and puberty (CDGP), but organic defects of the hypothalamo-pituitary-gonadal axis predisposing to hypogonadism may not always be initially distinguishable from it. CDGP and organic, or congenital hypogonadotrophic hypogonadism are both significantly more common in boys than girls. Moreover, around 1/3 of adults with organic hypogonadotrophic hypogonadism had evidence of partial puberty at presentation and, confusingly, some 5-10% of these subsequently may exhibit recovery of endogenous gonadotrophin secretion, including men with Kallmann syndrome. However, the distinction is crucial as expectative ('watch-and-wait') management is inappropriate in the context of hypogonadism. The probability of pubertal delay being caused by organic hypogonadism rises exponentially both with increasing age at presentation and the presence of associated 'red flag' clinical features. These 'red flags' comprise findings indicating lack of prior 'mini-puberty' (such as cryptorchidism or micropenis), or the presence of non-reproductive congenital defects known to be associated with specific hypogonadal syndromes, e.g. anosmia, deafness, mirror movements, renal agenesis, dental/digital anomalies, clefting or coloboma would be compatible with Kallmann (or perhaps CHARGE) syndrome. In children, interventions (whether in the form or treatment or simple reassurance) have been historically

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Section: Male Hypergonadotrophic Hypogonadismmentioning

confidence: 99%

TRANSITION IN ENDOCRINOLOGY: Induction of puberty

Dunkel

Quinton

2014

European Journal of Endocrinology

117

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“…Adolescents with KS were indeed found to have a similar onset of masturbation compared with subjects without KS, which occurs approximately at the age of 13 years (58). It is, however, of importance to know that adolescents with KS have some delayed ability for ejaculation (w9 months difference between the first masturbation and the first ejaculation) and that their ejaculate volume is rather small (58,69).…”

Section: Spermaturia and Spermogram Analysismentioning

confidence: 99%

“…The need to perform TESE already in adolescence can be questioned, as sperm was found in only one out of five adolescents with KS and in none of the seven adolescents with KS accepting TESE (68,69). Cryopreservation of spermatogonial stem cells at testicular tissue sampling (by TESE or by micro-biopsy) is a more important experimental procedure, to be proposed to adolescents and young adults with KS in research settings until more data are available (76).…”

Section: Tese Outcomementioning

confidence: 99%

TRANSITION IN ENDOCRINOLOGY: Management of Klinefelter syndrome during transition

Gies

Unuane

Velkeniers

et al. 2014

European Journal of Endocrinology

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Klinefelter syndrome (KS) is the most common sex chromosomal disorder in males. Key findings in older adolescents and young men are small testes with variable hypo-androgenism, but almost universal azoospermia, most frequently in combination with a history of learning difficulties and behavior problems. Males with KS may come to medical attention through different medical presentations, given its association with several congenital malformations, and psychiatric, endocrine, and metabolic disorders. Preventive care is to be provided from diagnosis, preferentially through a multidisciplinary approach, including that from an endocrinologist, clinical psychologist or psychiatrist, neurologist, urologist, geneticist, sexologist, and a fertility team. Accurate information about the condition and assessment of associated medical conditions should be offered at diagnosis and should be followed by psychological counseling. Medical treatment during transition into adulthood is focused on fertility preservation and testosterone replacement therapy in the case of hypo-androgenism, and alleviation of current or future consequences of testicular fibrosis. However, more research is needed to determine the need for pro-active testosterone treatment in adolescence, as well as the conditions for an optimal testosterone replacement and sperm retrieval in adolescents and young men with KS. Furthermore, screening for associated diseases such as metabolic syndrome, autoimmune diseases, thyroid dysfunction, and malignancies is warranted during this period of life. The practical medical management during transition and, more specifically, the role of the endocrinologist are discussed in this article.

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“…12 Another widely used method involves germ cell lineages generated after collection; the genes of interest are reprogrammed so that the new features will be perpetuated for future generations of cells from the patient. 13 From the ex vivo application, it was possible to develop a method of in vivo gene therapy based on mRNA interference (RNAi). The scientific reports on RNAi date from 1998, initially identified in the nematode Caenorhabditis elegans, 14 and, since then, this mechanism has been identified in many species, 15,16 included in all eukaryotic phyla.…”

Section: Introductionmentioning

confidence: 99%

Bioethical conflicts of gene therapy: a brief critical review

Freire

Medeiros

Neto

et al. 2014

Rev. Assoc. Med. Bras.

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Conflict of interest: noneMethods and techniques employed in gene therapy are reviewed in parallel with pertinent ethical conflicts. Clinical interventions based on gene therapy techniques preferentially use vectors for the transportation of therapeutic genes, however little is known about the potential risks and damages to the patient. Thus, attending carefully to the clinical complications arising as well as to security is essential. Despite the scientific and technological advances, there are still many uncertainties about the side effects of gene therapy. Moreover, there is a need, above all, to understand the principles of bioethics as both science and ethics, in accordance with its socioecological responsibility, in order to prioritize the health and welfare of man and nature, using properly natural resources and technology. Therefore, it is hard to determine objective results and to which extent the insertion of genes can affect the organism, as well as the ethical implications of it.

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The feasibility of fertility preservation in adolescents with Klinefelter syndrome

Cited by 88 publications

References 46 publications

TRANSITION IN ENDOCRINOLOGY: Induction of puberty

TRANSITION IN ENDOCRINOLOGY: Induction of puberty

TRANSITION IN ENDOCRINOLOGY: Management of Klinefelter syndrome during transition

Bioethical conflicts of gene therapy: a brief critical review

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