Management of Males with 45,X/46,XY Gonadal Dysgenesis

Müller, Jørn; Ritzén, E. M.; Ivarsson, Sten-A.; Meyts, Ewa Rajpert‐De; Norjavaara, Ensio; Skakkebæk, Niels E.

doi:10.1159/000023425

Cited by 56 publications

(30 citation statements)

References 31 publications

(23 reference statements)

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The possibility of testicular biopsy after puberty should be strongly considered in 45,X/46,XY males with cryptorchism and/or hypospadias. 9,10 The growth pattern of 45,X/46,XY female and male children recently described by Tosson et al revealed growth deceleration at the time of puberty and adult height compromised relative to mid-parental height. 7 Early GH treatment should be considered to be part of the management of short stature in 45,X/46,XY male children because, like girls with Turner syndrome, a good linear growth response to GH therapy was observed in these boys who started GH therapy early in life.…”

Section: Case Reportmentioning

confidence: 97%

“…Tumor risk is significantly higher in patients with marked genital ambiguity as compared to patients with mild undervirilisation or with a female phenotype. 1,9,10 There is not an exact prediction of tumor risk in normal males with 45,X/46,XY constitution, but based on the study of Cools et al, the risk is low because the clinical picture of a normal external masculinisation score and bilaterally descended testes suggests a (close to) normal testicular differentiation and maturation process. 9 Although our patients belong to the lower tumor risk category, close follow-up for development of gonadal tumors is mandatory, including physical examination and laboratory investigation with ultrasonography and serum tumor markers.…”

Section: Case Reportmentioning

confidence: 99%

See 1 more Smart Citation

45,X/46,XY mosaicism: a cause of short stature in males

Efthymiadou¹,

Stefanou²,

Chrysis³

2012

View full text Add to dashboard Cite

45,X/46,XY mosaicism is associated with a broad spectrum of phenotypes ranging from apparently normal male development to individuals with incomplete sexual differentiation and clinical signs of Turner syndrome in both males and females. The most common presentation among individuals with a 45,X/46,XY karyotype is sexual ambiguity, accounting for approximately 60% of cases, while the least common category of 45,X/46,XY patients consists of those with bilaterally descended testes, found in 11-12%. We report on two patients with an apparently normal male phenotype and 45,X/46,XY mosaicism who were diagnosed postnatally because of short stature. Both of these boys presented at the age of 15 years with short stature, minor Turner-like stigmata, normal male external genitalia and spontaneous pubertal development. One of them had coarctaction of the aorta with bicuspid aortic valve, an uncommon clinical feature in boys with mosaicism. The same patient underwent a trial of GH replacement therapy with poor response and his sperm analysis revealed azoospermia. Like our patients, most mosaic 45,X/46,XY children with bilateral scrotal testes go unrecognised at birth and throughout childhood unless they have somatic features of Turner syndrome or significant growth retardation. We recommend that boys with otherwise unexplained short stature, being short for their families, should be karyotyped routinely as is recommended in short-stature girls. In addition, boys with 45,X/46,XY mosaicism require a thorough clinical evaluation similar to that performed in girls with Turner syndrome and must be routinely followed up for their potential to respond favorably to GH treatment and for late onset abnormalities, such as infertility and gonadal tumors.

show abstract

Section: Case Reportmentioning

confidence: 97%

Section: Case Reportmentioning

confidence: 99%

45,X/46,XY mosaicism: a cause of short stature in males

Efthymiadou¹,

Stefanou²,

Chrysis³

2012

View full text Add to dashboard Cite

show abstract

“…Follow up of 92 patients in whom this karyotype had been detected by antenatal testing revealed that 95% had a normal male phenotype and of these, 27% had abnormal gonadal histology [Chang et al, 1990]. The risk of malignancy in the group with male phenotype remains unclear; a strategy has been proposed for management, involving close monitoring and testicular biopsies after puberty has been completed [Müller et al, 1999].…”

Section: X/46xy Partial Gonadal Dysgenesismentioning

confidence: 99%

Long-Term Outcome of Disorders of Sex Development

Warne

2008

Sex Dev

View full text Add to dashboard Cite

The management of disorders of sex development (DSD) has been a problem area for years, partly because clinicians have started to see that not all of their patients grow up to be happy adults content with the gender assigned to them at birth, and partly because of the vigorous activities of patient advocacy organizations who have publicized their unhappiness and disagreement about current practices to the world at large and to politicians in particular. Results from a large number of long-term outcome studies have been published in the last decade and this paper attempts to give an overview of what we now know and what we still do not know about how to obtain a good outcome for our patients. Many studies have focused on a particular disorder and there have been more about congenital adrenal hyperplasia and complete androgen insensitivity (CAIS) than any of the other conditions, even though mixed gonadal dysgenesis is probably more common than CAIS. This is because researchers have wanted to know about the effects of hormones on the brain. There have been studies from a number of different countries, and cultural differences come to the fore in disorders affecting sex and gender. Very few studies have been done in Africa or East Asia so far. Long-term outcome should be studied in every treatment center, but there is a great need for study instruments to be developed that would be robust enough to use in a range of different cultural settings and languages. The studies show that while many patients fare well and are leading productive lives, gender dysphoria has been underestimated in the past and that gender counseling as well as sexual counseling should be part of the multi-disciplinary service available to patients with DSD. More emphasis is also needed on strategies to prevent the development of germ cell cancers. Urological problems in both males and females with DSD have been underestimated and deserve more attention.

show abstract

“…liczbowe i strukturalne aberracje chromosomów płciowych [24,25]. Przypuszcza się także, że TDS może być związany z występowaniem specyficznej haplogrupy chromosomu Y -hp26, która jest najczęściej stwierdzana w populacji duńskiej i być może jest szczególnie wrażliwa na czynniki środo-wiskowe.…”

Section: Patogeneza Tdsunclassified