Molecular and evolutionary analysis of the growth-controlling region on the human Y chromosome

Kirsch, Stefan; Weiß, Birgit; Zumbach, Klaus Ulrich; Rappold, Gudrun

doi:10.1007/s00439-003-1028-z

Cited by 22 publications

(12 citation statements)

References 27 publications

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“…Thus, the tall stature in XXYY may be related to an overexpression of SHOX. Gene dosage effects of a potential growth control gene on the Y chromosome (GCY) has also been proposed and may be involved in the additional height in XXYY [Kirsch et al, 2004].…”

Section: Discussionmentioning

confidence: 99%

A new look at XXYY syndrome: Medical and psychological features

Tartaglia

Davis

Hench

et al. 2008

American J of Med Genetics Pt A

142

210

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XXYY syndrome occurs in approximately 1:18,000-1:40,000 males. Although the physical phenotype is similar to 47,XXY (tall stature, hypergonadotropic hypogonadism, and infertility), XXYY is associated with additional medical problems and more significant neurodevelopmental and psychological features. We report on the results of a cross-sectional, multicenter study of 95 males age 1-55 with XXYY syndrome (mean age 14.9 years), describing diagnosis, physical features, medical problems, medications, and psychological features stratified by age groups. The mean age of diagnosis was 7.7 years. Developmental delays and behavioral problems were the most common primary indication for genetic testing (68.4%). Physical and facial features varied with age, although hypertelorism, clinodactyly, pes planus, and dental problems were common across all age groups. Tall stature was present in adolescents and adults, with a mean adult stature of 192.4 cm (SD 7.5; n = 22). Common medical problems included allergies and asthma (>50%), congenital heart defects (19.4%), radioulnar synostosis (17.2%), inguinal hernia and/or cryptorchidism (16.1%), and seizures (15%). Medical features in adulthood included hypogonadism (100%), DVT (18.2%), intention tremor (71%) and type II diabetes (18.2%). Brain MRI (n = 35) showed white matter abnormalities in 45.7% of patients and enlarged ventricles in 22.8%. Neurodevelopmental and psychological difficulties were a significant component of the behavioral phenotype, with developmental delays and learning disabilities universal but variable in severity. Twenty-six percent had full-scale IQs in the range of intellectual disability (MR), and adaptive functioning was significantly impacted with 68% with adaptive composite scores <70. Rates of neurodevelopmental disorders, including ADHD (72.2%), autism spectrum disorders (28.3%), mood disorders (46.8%), and tic disorders (18.9%), were elevated with 55.9% on psychopharmacologic medication overall. Recommendations for evaluation and treatment are summarized.

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Section: Discussionmentioning

confidence: 99%

A new look at XXYY syndrome: Medical and psychological features

Tartaglia

Davis

Hench

et al. 2008

American J of Med Genetics Pt A

142

210

View full text Add to dashboard Cite

show abstract

“…The XX males have been reported to be significantly shorter than the Klinefelter's patients or than healthy men, as was our case, who was shorter than his father and brothers. The short stature in the XX male syndrome, in comparison to the stature in Klinefelter's patients or in normal men may be due to the absence of the Y -chromosome genes which are related to growth [8].…”

mentioning

confidence: 96%

The Sertoli Cell Only Syndrome and Glaucoma in a Sex – Determining Region Y (SRY) Positive XX Infertile Male

Jain

Chaudhary²,

Halder³

2013

JCDR

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The XX male syndrome is a rare genetic disorder. The phenotype is variable; it ranges from a severe impairment of the external genitalia to a normal male phenotype with infertility. It generally results from an unequal crossing over between the short arms of the sex chromosomes (X and Y). We are reporting a case of a 38-year-old man who presented with infertility and the features of hypogonadism and glaucoma. The examinations revealed normal external male genitalia, soft small testes, gynaecomastia and glaucoma. The semen analysis showed azoospermia. The serum gonadotropins were high, with low Anti Mullerian Hormone (AMH) and Inhibin B levels. The chromosomal analysis demonstrated a 46, XX karyotype. Fluorescent In-Situ Hybridization (FISH) and Polymerase Chain Reaction (PCR) revealed the presence of a Sex-determining Region Y (SRY). Testicular Fine Needle Aspiration Cytology (FNAC) revealed the Sertoli Cell Only Syndrome (SCOS). The presence of only Sertoli Cells in the testes, with glaucoma in the XX male syndrome, to our knowledge, has not been reported in the literature.

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“…The pericentromeric region (, 2 Mb) flanking this block in proximal Yq11 (Kirsch et al, 2004) was also not included in this Y sequence. It was revealed only recently and is composed by segmental duplications of sequence blocks also located in the pericentromeric region of different autosomes, namely chromosomes 1, 2, 3, 19, 16, and 22 (Kirsch et al, 2005).…”

Section: Phvogtmentioning

confidence: 99%

AZF deletions and Y chromosomal haplogroups: history and update based on sequence

Vogt

2005

Human Reproduction Update

121

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AZF deletions are genomic deletions in the euchromatic part of the long arm of the human Y chromosome (Yq11) associated with azoospermia or severe oligozoospermia. Consequently, it can be assumed that these deletions remove Y chromosomal genes required for spermatogenesis. However, these 'classical' or 'complete' AZF deletions, AZFa, AZFb and AZFc, represent only a subset of rearrangements in Yq11. With the benefit of the Y chromosome sequence, more rearrangements (deletions, duplications, inversions) inside and outside the classical AZF deletion intervals have been elucidated and intra-chromosomal non-allelic homologous recombinations (NAHRs) of repetitive sequence blocks have been identified as their major cause. These include duplications in AZFa, AZFb and AZFc and the partial AZFb and AZFc deletions of which some were summarized under the pseudonym 'gr/gr' deletions. At least some of these rearrangements are associated with distinct Y chromosomal haplogroups and are present with similar frequencies in fertile and infertile men. This suggests a functional redundancy of the AZFb/AZFc multi-copy genes. Alternatively, the functional contribution(s) of these genes to human spermatogenesis might be different in men of different Y haplogroups. That raises the question whether, the frequency of Y haplogroups with different AZF gene contents in distinct human populations leads to a male fertility status that varies between populations or whether, the presence of the multiple Y haplogroups implies a balancing selection via genomic deletion/amplification mechanisms.

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Molecular and evolutionary analysis of the growth-controlling region on the human Y chromosome

Cited by 22 publications

References 27 publications

A new look at XXYY syndrome: Medical and psychological features

A new look at XXYY syndrome: Medical and psychological features

The Sertoli Cell Only Syndrome and Glaucoma in a Sex – Determining Region Y (SRY) Positive XX Infertile Male

AZF deletions and Y chromosomal haplogroups: history and update based on sequence

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