Increased basal and pulsatile secretion of FSH and LH in young men with 47,XXY or 46,XX karyotypes.

Aksglæde, Lise; Jensen, Rikke Beck; Carlsen, Elisabeth; Kok, Petra; Keenan, Daniel M.; Veldhuis, Johannes D.; Skakkebæk, Niels E.; Juul, Anders

doi:10.1530/eje-07-0709

Cited by 16 publications

(17 citation statements)

References 40 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The same results have been reported by Ottesen et al (2010) and Aksglaede et al (2008). The same results have been reported by Ottesen et al (2010) and Aksglaede et al (2008).…”

Section: Discussionsupporting

confidence: 89%

Nonmosaic 47,XYY syndrome presenting with male infertility: case series

2011

View full text Add to dashboard Cite

In this study, we describe nine patients with 47,XYY presenting with male infertility. All patients were subjected to history taking, clinical examination, duplex ultrasonographic examination of the scrotum, endocrinological investigations and cytogenetic analysis of peripheral lymphocytes. Two patients tried intracytoplasmic sperm injection (ICSI). Our results showed that seven patients were oligospermic and two patients were azoospermic. Bilateral varicocele was detected in seven patients. The hormonal levels in the majority of the patients were within normal range. Two patients showed improvement after varicocelectomy. The wife of one of the oligospermic patients became successfully pregnant after the first trial of ICSI. In conclusion, this report suggests that patients with XYY may present with primary infertility and may show oligospermia and nonobstructive azoospermia. Careful clinical, ultrasonographic, endocrinological and cytogenetic examinations should be a part of their diagnostic work-up for the proper management of these patients. In addition, ICSI may be a hope for some of these patients.

show abstract

“…The same results have been reported by Ottesen et al (2010) and Aksglaede et al (2008). The same results have been reported by Ottesen et al (2010) and Aksglaede et al (2008).…”

Section: Discussionsupporting

confidence: 89%

Nonmosaic 47,XYY syndrome presenting with male infertility: case series

2011

View full text Add to dashboard Cite

show abstract

“…A study by Aksglaede describing 9 boys, ages 9.2-20 years, also reported 1 boy with an extremely high FSH and an immeasurably low inhibin B. 18 This constellation can be seen in Sertoli-cell-only syndrome, which has been reported in adults with XYY, 11,45-47 and is associated with decreased fertility. Gonadal histology in a study of XYY fetuses showed fewer spermatogonia than in XY controls.…”

Section: Discussionmentioning

confidence: 93%

“…1,6,18 There are reports of genitourinary anomalies, including microphallus, hypoplastic scrotum, cryptorchidism, and hypospadias in XYY. 11,19 …”

mentioning

confidence: 99%

47,XYY Syndrome: Clinical Phenotype and Timing of Ascertainment

Bardsley¹,

Kowal²,

Levy³

et al. 2013

The Journal of Pediatrics

143

155

View full text Add to dashboard Cite

Objective To describe auxologic, physical, and behavioral features in a large cohort of males with 47,XYY (XYY), ages newborn to young adult. Study design This is a cross-sectional descriptive study of male subjects with XYY who were evaluated at 1 of 2 specialized academic sites. Subjects underwent a history, physical examination, laboratory testing, and cognitive/behavioral evaluation. Results In 90 males with XYY (mean age 9.6 ± 5.3 years [range 0.5-36.5]), mean height SD was above average (1.0 ± 1.2 SD). Macrocephaly (head circumference >2 SD) was noted in 28/84 (33%), hypotonia in 57/90 (63%), clinodactyly in 47/90 (52%), and hypertelorism in 53/90 (59%). There was testicular enlargement for age (>2 SD) in 41/82 (50%), but no increase in genital anomalies. No physical phenotypic differences were seen in boys diagnosed prenatally vs postnatally. Testosterone, luteinizing hormone, and follicle stimulating hormone levels were in the normal range in most boys. There was an increased incidence of asthma, seizures, tremor, and autistic spectrum disorder (ASD) compared with the general population rates. Prenatally diagnosed boys scored significantly better on cognitive testing and were less likely to be diagnosed with ASD (P < .01). Conclusions The XYY phenotype commonly includes tall stature, macrocephaly, macroorchidism, hypotonia, hypertelorism, and tremor. Physical phenotypic features were similar in boys diagnosed prenatally vs postnatally. Prenatal diagnosis was associated with higher cognitive function and less likelihood of an ASD diagnosis.

show abstract

“…Then, germ cells fail to progress through meiosis and undergo apoptosis at puberty leading to reduced testis volume and azoospermia. Testosterone secretion is most frequently subnormal or clearly low, and gonadotropins are elevated in the adult (Vorona et al, 2007;Aksglaede et al, 2008).…”

Section: Foetal-onset Hypogonadism Foetal-onset Primary Hypogonadismmentioning

confidence: 99%

Male hypogonadism: an extended classification based on a developmental, endocrine physiology‐based approach

et al. 2012

View full text Add to dashboard Cite

SUMMARYNormal testicular physiology results from the integrated function of the tubular and interstitial compartments. Serum markers of interstitial tissue function are testosterone and insulin-like factor 3 (INSL3), whereas tubular function can be assessed by sperm count, morphology and motility, and serum anti-Mü llerian hormone (AMH) and inhibin B. The classical definition of male hypogonadism refers to testicular failure associated with androgen deficiency, without considering potential deficiencies in germ and Sertoli cells. Furthermore, the classical definition does not consider the fact that low basal serum testosterone cannot be equated to hypogonadism in childhood, because Leydig cells are normally quiescent. A broader clinical definition of hypogonadism that could be applied to male patients in different periods of life requires a comprehensive consideration of the physiology of the hypothalamic-pituitary-testicular axis and its disturbances along development. Here we propose an extended classification of male hypogonadism based on the pathophysiology of the hypothalamic-pituitary-testicular axis in different periods of life. The clinical and biochemical features of male hypogonadism vary according to the following: (i) the level of the hypothalamic-pituitary-testicular axis primarily affected: central, primary or combined; (ii) the testicular cell population initially impaired: whole testis dysfunction or dissociated testicular dysfunction, and: (iii) the period of life when the gonadal function begins to fail: foetal-onset or postnatal-onset. The evaluation of basal testicular function in infancy and childhood relies mainly on the assessment of Sertoli cell markers (AMH and inhibin B). Hypergonadotropism should not be considered a sine qua non condition for the diagnosis of primary hypogonadism in childhood. Finally, the lack of elevation of gonadotropins in adolescents or adults with primary gonadal failure is indicative of a combined hypogonadism involving the gonads and the hypothalamic-pituitary axis.

show abstract

Increased basal and pulsatile secretion of FSH and LH in young men with 47,XXY or 46,XX karyotypes.

Cited by 16 publications

References 40 publications

Nonmosaic 47,XYY syndrome presenting with male infertility: case series

Nonmosaic 47,XYY syndrome presenting with male infertility: case series

47,XYY Syndrome: Clinical Phenotype and Timing of Ascertainment

Male hypogonadism: an extended classification based on a developmental, endocrine physiology‐based approach

Contact Info

Product

Resources

About