Hypospadiasis előfordulása öt fivérben

The healthy couple had five sons with hypospadias (glandular 1, coronal 4) without other child. Similar familial cluster has not reported in the sons of European parents without consanguinity. Mild form androgen insensitivity syndrome was expected in these 5 boys because of the X-linked androgen receptor gene, however, sequencing of the entire coding region (exons 1-8) and all intron-exon boundaries of the androgen receptor gene did not reveal abnormality and the CAG repeat was found in the normal range (21 repeats). This extreme familial cluster may help us to elucidate gene polymorphisms in the polygenic background of the multifactorial origin of isolated hypospadias. Therefore, the authors collaborate with a genetic institute in Pittsburg, USA to perform whole genome sequencing in these probands and their parents. Orv. Hetil., 2015, 156(33), 1348–1352.

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The CAG Repeat Within the Androgen Receptor Gene and Benign Prostatic Hyperplasia

The Journal of Urology ◽

10.1097/00005392-199907000-00090 ◽

1999 ◽

Vol 162 (1) ◽

pp. 269-270

Author(s):

E. Giovannucci ◽

E.A. Platz ◽

M.J. Stampfer ◽

A. Chan ◽

K. Krithivas ◽

...

Keyword(s):

Androgen Receptor ◽

Benign Prostatic Hyperplasia ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Prostatic Hyperplasia ◽

Cag Repeat

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Association Between Androgen Receptor Gene CAG Repeat Polymorphism and Plasma Testosterone Levels in Postmenopausal Women

Journal of the Society for Gynecologic Investigation ◽

10.1016/j.jsgi.2004.11.003 ◽

2005 ◽

Vol 12 (2) ◽

pp. 135-141 ◽

Cited By ~ 29

Author(s):

Ilma Simoni Brum ◽

Poli Mara Spritzer ◽

Franyoise Paris ◽

Maria Augusta Maturana ◽

Franyoise Audran ◽

...

Keyword(s):

Androgen Receptor ◽

Postmenopausal Women ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Cag Repeat ◽

Plasma Testosterone ◽

Repeat Polymorphism ◽

Testosterone Levels

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Complete androgen insensitivity syndrome is frequently due to premature stop codons in exon 1 of the androgen receptor gene: an international collaborative report of 13 new mutations

Fertility and Sterility ◽

10.1016/j.fertnstert.2009.03.057 ◽

2010 ◽

Vol 94 (2) ◽

pp. 472-476 ◽

Cited By ~ 24

Author(s):

Pascal Philibert ◽

Françoise Audran ◽

Catherine Pienkowski ◽

Isabelle Morange ◽

Birgit Kohler ◽

...

Keyword(s):

Androgen Receptor ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Androgen Insensitivity Syndrome ◽

Complete Androgen Insensitivity Syndrome ◽

Androgen Insensitivity ◽

Stop Codons ◽

Exon 1 ◽

International Collaborative ◽

New Mutations

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The GGN and CAG repeat polymorphisms in the exon-1 of the androgen receptor gene are, respectively, associated with insulin resistance in men and with dyslipidemia in women

The Journal of Steroid Biochemistry and Molecular Biology ◽

10.1016/j.jsbmb.2008.12.009 ◽

2009 ◽

Vol 113 (3-5) ◽

pp. 202-208 ◽

Cited By ~ 14

Author(s):

Germán Rodríguez-González ◽

Raquel Ramírez-Moreno ◽

Patricia Pérez ◽

Cristina Bilbao ◽

Laura López-Ríos ◽

...

Keyword(s):

Insulin Resistance ◽

Androgen Receptor ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Cag Repeat ◽

Exon 1

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Reduced expression and normal nucleotide sequence of androgen receptor gene coding and promoter regions in a family with partial androgen insensitivity syndrome

Clinical Endocrinology ◽

10.1046/j.1365-2265.1997.1250941.x ◽

1997 ◽

Vol 46 (3) ◽

pp. 281-288 ◽

Cited By ~ 4

Author(s):

Catherine S. Choong ◽

Marian J. Sturm ◽

Julie A. Strophair ◽

Ross K. McCulloch ◽

David M. Hurley

Keyword(s):

Androgen Receptor ◽

Nucleotide Sequence ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Androgen Insensitivity Syndrome ◽

Promoter Regions ◽

Androgen Insensitivity ◽

Gene Coding ◽

Partial Androgen Insensitivity Syndrome

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Prenatal prediction of androgen insensitivity syndrome using exon 1 polymorphism of the androgen receptor gene

The Journal of Steroid Biochemistry and Molecular Biology ◽

10.1016/0960-0760(92)90291-p ◽

1992 ◽

Vol 43 (7) ◽

pp. 659-663 ◽

Cited By ~ 5

Author(s):

Jean Marc Lobaccaro ◽

Serge Lumbroso ◽

Françoise Carré Pigeon ◽

Jean-Louis Chaussain ◽

Jean-Edmond Toublanc ◽

...

Keyword(s):

Androgen Receptor ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Androgen Insensitivity Syndrome ◽

Androgen Insensitivity ◽

Exon 1

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Partial androgen insensitivity syndrome presenting as pubertal gynecomastia: clinical and hormonal findings and a novel mutation in the androgen receptor gene

Endocrinology Diabetes and Metabolism Case Reports ◽

10.1530/edm-18-0128 ◽

2018 ◽

Vol 2018 ◽

Cited By ~ 1

Author(s):

Priya Vaidyanathan ◽

Paul Kaplowitz

Keyword(s):

Androgen Receptor ◽

Novel Mutation ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Androgen Insensitivity Syndrome ◽

List Type ◽

Androgen Insensitivity ◽

Estrogen Production ◽

Partial Androgen Insensitivity Syndrome ◽

Pubertal Gynecomastia

Summary Pubertal gynecomastia is common, can be seen in 65% of the adolescent boys and is considered physiological. It is thought to be due to transient imbalance between the ratio of testosterone and estradiol in the early stages of puberty. It resolves in 1–2 years and requires no treatment. However, more persistent and severe pubertal gynecomastia is less common and can be associated with pathological disorders. These can be due to diminished androgen production, increased estrogen production or androgen resistance. We report a case of persistent pubertal gynecomastia due to partial androgen insensitivity syndrome (PAIS), classical hormone findings and a novel mutation in the androgen receptor (AR) gene. Learning points: Laboratory testing of follicle-stimulating hormone (FSH), leutinizing hormone (LH) and testosterone for pubertal gynecomastia is most helpful in the setting of undervirization. The hormonal finding of very high testosterone, elevated LH and estradiol and relatively normal FSH are classical findings of PAIS. Gynecomastia due to PAIS will not resolve and surgery for breast reduction should be recommended.

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