All patients present difficulty in learning at school age, with an IQ around 70-80. [scielo.conicyt.cl]

Five individuals with a variant of Klinefelter's (XXYY) syndrome are presented. The characteristics of the syndrome are discussed, including those signs of interest to dermatology. [jamanetwork.com]

The group presented a case of an unborn boy with a 47,XX,mar(Y) karyotype [Sheth et al., 2009]. [karger.com]

Often, boys and men with 47, XXY (KS) will present with verbal communication delays due to language-based learning disorders and subtle motor planning deficits. [rarediseases.org]

Reproduction in men with Klinefelter syndrome: the past, the present, and the future. Semin Reprod Med. 2009 Mar. 27(2):137-48. [Medline]. Sokol RZ. It's not all about the testes: medical issues in Klinefelter patients. [medscape.com]

• Fishing

  Using different FISH clones for the SRY gene and for the centromeric and the subtelomeric region of the Y chromosome they found the presence of a neocentric inv dup (Y)(pter→Yp11.2::Yp11.2→pter). [karger.com]

• Aspiration

  A birth in non-mosaic Klinefelter's syndrome after testicular fine needle aspiration, intracytoplasmic sperm injection and preimplantation genetic diagnosis. Hum Reprod. 1998 Jul. 13(7):1887-92. [Medline]. [Full Text]. [medscape.com]

• Prognathism

  Patients have short stature and are microcephalic with dysmorphic facial features (ocular hypertelorism, epicanthal folds, flat nasal bridge, prognathism), and a short or broad neck. [medscape.com]

  Affected males show a normal to tall stature with a decreased upper segment to lower segment ratio, hypertelorism and epicanthic folds, simplified ears and mild prognathism, skeletal anomalies including clinodactyly, abnormalities of the elbows and radioulnar [karger.com]

• Thrombosis

  Klinefelter syndrome and testosterone treatment: a national cohort study on thrombosis risk. Endocr Connect. 2020 Jan. 9 (1):34-43. [Medline]. [Full Text]. [medscape.com]

  In the adulthood, medical features like hypogonadism, deep vein thrombosis, intention tremor, and type II diabetes were found [Tartaglia et al., 2008, 2009]. In the same year, Zhang and Li [2009] reported a case with 48,XXYY karyotype. [karger.com]

• Hyperextensible Joints

  joints, hypergonadotropic hypogonadism, hypoplastic genitalia, and cryptorchidism. [medscape.com]

  joints, and underdeveloped genitalia with hypergonadotropic hypogonadism [Visootsak et al., 2007]. [karger.com]

• Suggestibility

  It was suggested that this gene might function downstream to the SRY gene in the sex-determination pathway. [karger.com]

• Poor Coordination

  […] body habitus; sparse body hair; gynecomastia; long, thin legs; hypergonadotropic hypogonadism; and small testes and penis. 48,XXXY variant: Patients typically have intellectual challenges (IQ range 40-60, marked speech delay, slow motor development, poor [medscape.com]

• Global Developmental Delay

  The patient presented global developmental delay, mainly in expressive language which was managed with early stimulation since the age of four months, achieving kindergarten attendance. [scielo.conicyt.cl]

Treatment involves the targeted administration of male hormones (androgens), such as testosterone enanthate, cypionate, or androgel. [rarediseases.org]

Fertility: assessment and treatment for people with fertility problems. 2004 Feb. 216. [Full Text]. Deebel NA, Galdon G, Zarandi NP, et al. [medscape.com]

Regarding development, at four months of age, he started treatment with early kinesics and speech and hearing stimulation. [scielo.conicyt.cl]

About AXYS Media Board and Staff Finances Volunteer Professional Advisory Committee Accomplishments Support AXYS DONATE NOW Ways to Give Fundraising Ideas AXYS Fundraising Donation Form XXYY Fundraising Donation Form Matching Grants Library Research & Treatment [genetic.org]

Without treatment, the shortage of testosterone can lead to delayed or incomplete puberty, breast enlargement (gynecomastia), decreased muscle mass, decreased bone density, and a reduced amount of facial and body hair. [medlineplus.gov]

Early diagnosis in these children is es sential to initiate early neurostimulation therapy and improve their long-term prognosis. [scielo.conicyt.cl]

With the help of these data, they proposed that the DAX1 and WNT4 are rarely involved in the etiology of male gonadal development in sex-reversed patients. This fact suggests the presence of other genes in the sex determination cascade. [karger.com]

During cell division, an error called nondisjunction prevents X chromosomes from being distributed normally among reproductive cells as they form. [medlineplus.gov]

To prevent misinterpretation or even adulteration of the original karyotypes, we always took over the karyotypes as indicated in the original literature. [karger.com]