WordNet

for or pertaining to or composed of men or boys; "the male lead"; "the male population"
an animal that produces gametes (spermatozoa) that can fertilize female gametes (ova)
a person who belongs to the sex that cannot have babies (同)male person
characteristic of a man; "a deep male voice"; "manly sports" (同)manful, manlike, manly, virile
being the sex (of plant or animal) that produces gametes (spermatozoa) that perform the fertilizing function in generation; "a male infant"; "a male holly tree"
informal terms for a mother (同)mama, mamma, mom, momma, mommy, mammy, mum, mummy
the 24th letter of the Roman alphabet (同)x, ex
(genetics) normal complement of sex chromosomes in a female
the capital of Maldives in the center of the islands

PrepTutorEJDIC

『男性の』,男の;(動物が)雄の,(植物が)雄性の / 《名詞の前にのみ用いて》(機械・器具などが)雄の差し込み口のある / 『男性』;(動物の)雄,雄性植物
《M-》《話》おかあちゃん(mamma)
Christ / Christian

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/02/24 14:29:10」(JST)

wiki en

XX male syndrome (also called de la Chapelle syndrome, for Albert de la Chapelle, who characterized it in 1972^[1]^[2]) is a rare sex chromosomal disorder. Usually, it is caused by unequal crossing over between X and Y chromosomes during meiosis in the father, which results in the X chromosome containing the normally-male SRY gene. When this X combines with a normal X from the mother during fertilization, the result is an XX male.

This syndrome occurs in approximately four or five in 100,000 individuals, making it less common than Klinefelter syndrome.^[3]^[4]

Presentation

Symptoms usually include small testes and subjects are invariably sterile. Individuals with this condition sometimes have feminine characteristics, with varying degrees of gynecomastia but with no intra-abdominal Müllerian tissue.^[5] According to research at the University of Oklahoma health science centers, most XX males are not stereotypically feminine and are typical boys and men^[5] although other reports suggest that facial hair growth is usually poor and libido is diminished, with notable exceptions.^[6]

Clinical diagnosis

Standard XX karyotype in two tissues (with at least one, or both, containing the male SRY gene)
Male external genitalia, sometimes showing hypospadias
Two testes which may or may not have descended the inguinal canal. Most XX males have descended testes.
Absence of Müllerian tissue

Pathophysiology

Males typically have one X chromosome and one Y chromosome in each diploid cell of their bodies. Females typically have two X chromosomes. XX males have two X chromosomes, with one of them containing genetic material from the Y chromosome, making them phenotypically male; they are genetically female but otherwise appear to be male.

External links

GeneReviews/NCBI/NIH/UW entry on 46,XX Testicular Disorder of Sex Development
GeneReviews/NCBI/NIH/UW entry on 46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis

References

^ de la Chapelle A (1972). "Analytic review: nature and origin of males with XX sex chromosomes". Am J Hum Genet 24 (1): 71–105. PMC 1762158. PMID 4622299.
^ de la Chapelle, Albert (1985). Cytogenetics of the mammalian X-chromosome, Part B: Progress and topics in cytogenetics. New York: Alan Liss. pp. 75–85.
^ Vorona E, Zitzmann M, Gromoll J, Schüring AN, Nieschlag E (September 2007). "Clinical, endocrinological, and epigenetic features of the 46,XX male syndrome, compared with 47,XXY Klinefelter patients". J. Clin. Endocrinol. Metab. 92 (9): 3458–65. doi:10.1210/jc.2007-0447. PMID 17579198.
^ http://www.healthline.com/galecontent/xx-male-syndrome Healthline.com: XX Male Syndrome
^ ^a ^b Lisker R, Flores F, Cobo A, Rojas FG (December 1970). "A case of XX male syndrome". J. Med. Genet. 7 (4): 394–398. doi:10.1136/jmg.7.4.394. PMC 1468937. PMID 5501706.
^ Abusheikha N, Lass A, Brinsden P (2001). "Case Report: XX male without SRY gene and with infertility" (PDF). Human Reproduction 16 (4): 717–718. doi:10.1093/humrep/16.4.717. PMID 11278224.

UpToDate Contents

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1. アンドロゲン受容体障害の診断および治療 diagnosis and treatment of disorders of the androgen receptor
2. Techniques and devices for airway management for anesthesia: Supraglottic devices (including laryngeal mask airways)
3. 正常な性的発育 normal sexual development
4. 生殖能力および妊娠に対する父親の高齢化の影響 effect of advanced paternal age on fertility and pregnancy
5. 性腺機能低下を呈する男性の臨床的特徴および診断 clinical features and diagnosis of male hypogonadism

English Journal

Uniparental Disomy in Somatic Mosaicism 45,X/46,XY/46,XX Associated with Ambiguous Genitalia.

Serra A1, Denzer F, Hiort O, Barth TF, Henne-Bruns D, Barbi G, Rettenberger G, Wabitsch M, Just W, Leriche C.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation.Sex Dev.2015 Jun 3. [Epub ahead of print]
Disorders of sex development (DSD) affect the development of chromosomal, gonadal and/or anatomical sex. We analyzed a patient with ambiguous genitalia aiming to correlate the genetic findings with the phenotype. Blood and tissue samples from a male patient with penoscrotal hypospadias were analyzed
PMID 26043854

Functional mu opioid receptor polymorphism (OPRM1 A(118) G) associated with heroin use outcomes in Caucasian males: A pilot study.

Woodcock EA1, Lundahl LH, Burmeister M, Greenwald MK.
The American journal on addictions / American Academy of Psychiatrists in Alcoholism and Addictions.Am J Addict.2015 Jun;24(4):329-35. doi: 10.1111/ajad.12187. Epub 2015 Apr 24.
BACKGROUND: Heroin's analgesic, euphoric and dependence-producing effects are primarily mediated by the mu opioid receptor (MOR). A single gene, OPRM1, encodes the MOR. The functional polymorphism A(118) G, located in exon 1 of the OPRM1 gene, results in anatomically-specific reductions in MOR expre
PMID 25911999

An observational study of buprenorphine treatment of the prescription opioid dependent pain patient.

Streltzer J1, Davidson R, Goebert D.
The American journal on addictions / American Academy of Psychiatrists in Alcoholism and Addictions.Am J Addict.2015 Jun;24(4):357-61. doi: 10.1111/ajad.12198. Epub 2015 Feb 12.
BACKGROUND AND OBJECTIVES: In some countries, particularly the United States and Canada, there has been a growing problem of opioid dependence associated with the treatment of chronic pain. Controversy exists regarding the efficacy and safety of opioid therapy, particularly in high doses for extende
PMID 25675861

Japanese Journal

Germ cells are not the primary factor for sexual fate determination in goldfish

Goto Rie,Saito Taiju,Takeda Takahiro,Fujimoto Takafumi,Takagi Misae,Arai Katsutoshi,Yamaha Etsuto
Developmental Biology 370(1), 98-109, 2012-10-01
… Recent studies in zebrafish and medaka have shown that a lack of germ cells in the early gonad induces sex reversal in favor of a male phenotype. … Here, we investigated the role of germ cells in gonadal differentiation in goldfish, a gonochoristic species that possesses an XX-XY genetic sex determination system. … Male germline chimeras possessed a testis and a contralateral empty testis that contained some sperm in the tubular lumens. …
NAID 120004883857

Histological and Genetic Characterization of True Hermaphroditism in Korean Pigs

LEE Dong-Soo,LEE Ji Hye,PARK Jie Yeun,LEE Seung Jun,KIM Keun Jung,KIM Eun Young,SON Hwa-Young,SOHN Sea Hwan,WOO Jae Suk,KIM Min Kyu
Journal of Veterinary Medical Science 2012(0), 2012
… True hermaphrodites are animals of equivocal sex in which both male and female gonads develop simultaneously in the same individual. … Samples showed the interpretation of 38, XX female karyotype, and sex-determining region Y (SRY) gene expression was negative. …
NAID 130001879667

Evidence for Almost Complete Sex-reversal in Bovine Freemartin Gonads: Formation of Seminiferous Tubule-like Structures and Transdifferentiation into Typical Testicular Cell Types

HARIKAE Kyoko,TSUNEKAWA Naoki,HIRAMATSU Ryuji,TODA Syohei,KUROHMARU Masamichi,KANAI Yoshiakira
Journal of Reproduction and Development 2012(0), 2012
… Meanwhile XX fetuses without SRY develop ovaries. … In cattle, most XX heifers born with a male twin, so-called freemartins, develop nonfunctioning ovaries and genitalia with an intersex phenotype. … Here, we report a rare case of a freemartin Japanese black calf with almost complete XX sexreversal. …
NAID 130001855004

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