Establishment of testicular endocrine function impairment during childhood and puberty in boys with Klinefelter syndrome

Bastida, María Gabriela; Rey, Rodolfo; Bergadá, Ignacio; Bedecarrás, Patricia; Andreone, Luz; Rey, Graciela del; Boywitt, Adriana; Ropelato, María Gabriela; Cassinelli, Hamilton; Arcari, Andrea; Campo, Stella; Gottlieb, Silvia

doi:10.1111/j.1365-2265.2007.02977.x

Cited by 99 publications

(89 citation statements)

References 38 publications

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“…Concomitantly, a dramatic decline is observed in inhibin B concentrations, which are most often undetectable at the end of puberty in Klinefelter patients (17,38,39). The physiological pubertal decline in serum AMH is also observed in KS, although this occurs later than observed in healthy boys (18,43,44). At midpuberty, a relative hypogonadism is usually evident by increasing LH and FSH concentrations to hypergonadotropic levels.…”

Section: Testicular Endocrinologymentioning

confidence: 91%

“…In childhood, KS boys are characterized by normal concentrations of testosterone, FSH, LH, anti-Mü llerian hormone (AMH), inhibin B, and insulin-like factor 3 (INSL3) until the onset of puberty (17,18,36,37,38,39,40,41,42,43). KS boys usually enter puberty at the expected age with an initial normal increase in testicular volume (Fig.…”

Section: Testicular Endocrinologymentioning

confidence: 99%

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Therapy of endocrine disease: Testicular function and fertility in men with Klinefelter syndrome: a review

Aksglæde

Juul

2013

European Journal of Endocrinology

175

114

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Klinefelter syndrome, 47,XXY (KS), is the most frequent sex chromosome aberration in males, affecting 1 in 660 newborn boys. The syndrome is characterized by testicular destruction with extensive fibrosis and hyalinization of the seminiferous tubules resulting in small testes, hypergonadotropic hypogonadism, and azoospermia in the majority of cases. Until recently, infertility was considered an untreatable condition in KS. However, with the development of new advanced assisted reproductive techniques such as testicular sperm extraction (TESE) combined with ICSI it seems that KS patients should no longer be labelled as infertile. Especially, microdissection (micro)-TESE has proved to be an advantageous procedure for the identification of testicular spermatozoa in KS. The aim of this review was to describe current knowledge on the testicular changes occurring in KS, the associated changes in reproductive hormones and spermatogenesis, and the existing possibilities of biological fatherhood in 47,XXY patients. European Journal of Endocrinology 168 R67-R76

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Section: Testicular Endocrinologymentioning

confidence: 91%

Section: Testicular Endocrinologymentioning

confidence: 99%

Therapy of endocrine disease: Testicular function and fertility in men with Klinefelter syndrome: a review

Aksglæde

Juul

2013

European Journal of Endocrinology

175

114

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“…La detección de AMH e inhibina B bajas con gonadotrofinas no elevadas es altamente sugestivo de hipogonadismo secundario 32 . En el síndrome de Klinefelter, las hormonas del eje hipófiso-gonadal están normales en esta etapa de la vida 33,34 , si bien algunos autores han encontrado niveles ligeramente disminuidos de testosterona 35,36 . La ecografía es la metodología más utilizada en la búsqueda de testículos no descendidos puesto que permite confirmar la existencia de testículos pequeños o rudimentarios presentes en las bolsas con una especificidad del 95% [37][38][39] .…”

Section: Evaluación Clínicaunclassified

Criptorquidia: desde la embriología al tratamiento

Blanco¹,

Gottlieb

Grinspon

et al. 2015

Rev. Medicas UIS

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RESUMENLa criptorquidia es la anomalía genital más común en el recién nacido varón y a pesar de que su evaluación y tratamiento han progresado con las décadas, siguen existiendo muchas controversias al respecto. En todo niño, el examen físico genital debe buscar la presencia de las gónadas en el escroto, en su ausencia, debe tratar de distinguirse si la anomalía es unilateral o bilateral, definiéndose con la mayor precisión posible la posición de estas y distinguiéndose entre testículo criptórquido, ectópico y retráctil junto con la valoración de la existencia de tejido testicular funcional a través de estudios hormonales. El tratamiento puede ser hormonal o quirúrgico, este último no se recomienda antes del año de edad además corresponde a la terapia más exitosa para reubicar el testículo en el escroto en aquellos pacientes con gónadas en posición inguinal alta, abdominal o en posición ectópica, o en aquellos en los que la terapia hormonal ha fallado. Por otro lado, la terapia hormonal se recomienda en mayor medida cuando las gónadas están en posición inguinal media, baja o escrotal alta. El tratamiento apunta a reducir, aunque no siempre logra evitar los posibles problemas a largo plazo de infertilidad y cáncer de testículo. MÉD UIS. 2015;28(3):371-80.Palabras clave: Fertilidad. Neoplasia Testicular. Orquidopexia. Cryptorchidism: from embryology to treatment ABSTRACTCryptorchidism is the most frequent genital anomaly in the newborn male. Although significant progress has been made in the assessment and treatment of cryptorchidism, several controversies still exist. In every boy, the physical examination should seek the presence of the gonads in the scrotum. Otherwise, it should be made clear whether cryptorchidism is unilateral or bilateral, the position of the gonad should be defined as precisely as possible, distinguishing between cryptorchidism, ectopia and retractile testes. Hormonal laboratory studies help assessing the existence of functional testicular tissue. Treatment may be hormonal or surgical. The latter is not recommended before the age of 1 year. Surgery has the highest rates of success in patients with gonads in high inguinal, abdominal or ectopic position, or when hormonal treatment has failed. Hormonal treatment may be successful in patients with gonads in low inguinal or high scrotal position. Treatment aims to reduce, although it does not always avoids, the risks of infertility and of testicular cancer in the long term. MÉD UIS. 2015;28(3):371-80.

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“…However, most adolescents with KS pass through puberty normally, without any symptoms of hypogonadism, achieving a normal adult penis size and pubic hair development. During the transition period, the hypo-androgenism is rather relative than absolute with serum levels of testosterone in the low normal range (30,32). In up to two-thirds of adult (20-40 years old) men with KS, normal testosterone concentrations can be measured (33), even if their testes are in general very small (below 6 ml at ultrasound) (34,35).…”

Section: Instauration Of Testosterone Replacement Treatmentmentioning

confidence: 99%

“…Occurrence of hypo-androgenism While a normal testicular growth and testosterone increase occurs in boys with KS at the onset of puberty, an arrest or even an involution of the testes from mid-puberty is observed in most, but not all, adolescents (29,30,31). However, most adolescents with KS pass through puberty normally, without any symptoms of hypogonadism, achieving a normal adult penis size and pubic hair development.…”

Section: Instauration Of Testosterone Replacement Treatmentmentioning

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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Establishment of testicular endocrine function impairment during childhood and puberty in boys with Klinefelter syndrome

Abstract: In Klinefelter syndrome, a mild Leydig cell dysfunction is present from early childhood in most cases and persists throughout puberty. Sertoli cell function is normal until mid puberty, when a dramatic impairment is observed.

Cited by 99 publications

References 38 publications

Therapy of endocrine disease: Testicular function and fertility in men with Klinefelter syndrome: a review

Therapy of endocrine disease: Testicular function and fertility in men with Klinefelter syndrome: a review

Criptorquidia: desde la embriología al tratamiento

TRANSITION IN ENDOCRINOLOGY: Management of Klinefelter syndrome during transition

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