Klinefelter syndrome

Klinefelter syndrome is a chromosomal condition that affects male physical and cognitive development. Its signs and symptoms vary among affected individuals.Affected individuals typically have small testes that do not produce as much testosterone as usual. Testosterone is the hormone that directs male sexual development before birth and during puberty. A shortage of testosterone can lead to delayed or incomplete puberty, breast enlargement (gynecomastia), reduced facial and body hair, and an inability to have biological children (infertility). Some affected individuals also have genital differences including undescended testes (cryptorchidism), the opening of the urethra on the underside of the penis (hypospadias), or an unusually small penis (micropenis).Older children and adults with Klinefelter syndrome tend to be taller than their peers. Compared with unaffected men, adults with Klinefelter syndrome have an increased risk of developing breast cancer and a chronic inflammatory disease called systemic lupus erythematosus. Their chance of developing these disorders is similar to that of women in the general population.Children with Klinefelter syndrome may have learning disabilities and delayed speech and language development. They tend to be quiet, sensitive, and unassertive, but personality characteristics vary among affected individuals.

Different Conditions

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Also Known As

  • 46,XY DSD due to a defect in testicular development
  • Related ICD 10 COde
    ICD 10 Code E29

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    46,XY disorder of sex development due to a defect in testosterone metabolism

    Steroid 5-alpha-reductase 2 deficiency is a rare disorder of sex development (DSD), characterized by incomplete differentiation of male genitalia in 46X,Y patients.

    Additional Information

    Steroid 5-alpha-reductase 2 deficiency is a rare disorder leading to male pseudohermaphroditism (MPH), a condition characterized by incomplete differentiation of male genitalia in 46X,Y patients. The enzyme 5-alpha-reductase 2 catalyses the conversion of testosterone (T) to dihydrotestosterone (DHT), which is essential for normal differentiation of the external male genitalia and development of the urogenital sinus. The classical syndrome (pseudovaginal perineoscrotal hypospadias) is characterized at birth by ambiguous external genitalia with a clitoral-like phallus, hypospadias, bifid scrotum and persistent urogenital sinus with a perineal blind vaginal pouch. However, external genitalia phenotypes may range from complete female to male with hypospadias and/or micropenis. Testes are found in the labioscrotal folds or inguinal canals. The internal urogenital tract is well developed and M???llerian duct derived structures are absent. At puberty, unless gonadectomy has already been performed, significant virilization without gynecomastia occurs, due to the action of testosterone. Most patients are infertile. The disorder is transmitted as an autosomal recessive trait. The enzyme 5-alpha-reductase 2 is encoded by the SRD5A2 gene localized to 2p23. More than 40 mutations have been reported in all five exons of the SRD5A2 gene. These are mainly amino-acid substitutions, but complete gene deletion, small deletions, nonsense mutations and splice site mutations have also been detected. Baseline and post-hCG (human chorionic gonadotropin) stimulation hormonal investigations reveal normal or elevated testosterone levels, low DHT and an increased T/DHT ratio (> 20). The conversion of T to DHT can be assessed in cultured genital skin fibroblasts, but false negative results are frequent. Gender assignment is still debated and must be carefully discussed for each patient, depending on the expected results of masculinizing genitoplasty. If female assignment is selected, feminizing genitoplasty and gonadectomy should be performed. Prenatal diagnosis is available for the kindred of affected patients if the causal mutations have been characterized.

    Also Known As

  • 46,XY DSD due to 5-alpha-reductase 2 deficiency
  • Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency
  • Related ICD 10 COde
    ICD 10 Code E29

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    Related ICD 10 COde
    ICD 10 Code E29

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    Chromosomal disorders affecting the skin

    Klinefelter syndrome defines a group of chromosomal disorders in which there is at least one extra X chromosome compared with the normal 46,XY male karyotype. The effects on physical features and on physical and cognitive development increase with the number of extra X's, and each extra X is associated with an intelligence quotient (IQ) decrease of approximately 15-16 points, with language most affected, particularly expressive language skills.

    Where It Occurs

    Skin System (Integumentary System)

    Also Known As

  • Klinefelter syndrome in males
  • Klinefelter syndrome, unspecified
  • Related ICD 10 COde
    ICD 10 Code Q98.4

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    Also Known As

  • 46,XY DSD due to environnemental chemical exposure
  • Related ICD 10 COde
    ICD 10 Code E29

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    Related ICD 10 COde
    ICD 10 Code E29

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    Dysgenetic 46,XY disorder of sex development

    Frasier syndrome is characterised by the association of 46,XY disorder of sex development (DSD) and glomerular nephropathy, with a high risk of developing gonadoblastoma. Patients with Frasier syndrome present with normal female external genitalia and streak gonads, and have a 46,XY karyotype. Nephropathy presents during childhood with proteinuria and nephrotic syndrome, and progresses to end-stage renal disease in adolescence or adulthood.

    Additional Information

    Frasier syndrome is characterised by the association of male pseudohermaphrodism and glomerular nephropathy. This syndrome is associated with a high risk of developing gonadoblastoma. Prevalence of this rare disease is unknown. Patients with Frasier syndrome present with normal female external genitalia and streak gonads, and have a 46,XY karyotype. Nephropathy presents during childhood with proteinuria and nephrotic syndrome, and progresses to end-stage renal disease in adolescence or adulthood. Heterozygous mutations in the WT1 gene have been found in women affected by Frasier syndrome. The WT1 gene contains 10 exons and codes for a zinc-finger DNA-binding protein. This protein plays an important role in renal and gonadal development. Mutations responsible for Frasier syndrome are located in intron 9, an alternative splicing site, and lead to the loss or haploinsufficiency of the WT1+KTS isoform, a transcription factor. Histologically, glomerular lesions are not specific. They consist of minimal glomerular lesions associated with segmental and focal glomerular hyalinosis. In women, the diagnosis may be made during investigation for primary amenorrhea, or, in some cases, after renal transplant when nephropathy has progressed to renal failure.
    Related ICD 10 COde
    ICD 10 Code E29

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    Inherited cancer-predisposing syndromes

    A disease affecting males, caused by mutations in the Wilms tumour suppressor (WT1) gene. This disease is characterized by nephropathy (diffuse mesangial sclerosis) and pure gonadal dysgenesis with male pseudohermaphroditism (with a 46 XY karyotype) or Wilms tumour, leading to rapid decline of the glomerular filtration rate and end stage renal disease. This disease may also present with oedema, abdominal distention, or recurrent infections and poor feeding or growth, decreased activity and oliguria. Confirmation is by detection of proteinuria in a routine urine sample.

    Additional Information

    Denys-Drash syndrome is characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma. The prevalence is unknown but approximately 150 cases have been described so far. Wilms tumour may be the first clinical manifestation of the syndrome. Diffuse mesangial sclerosis develops after birth with massive proteinuria and nephrotic syndrome. Progression to renal failure occurs within 1 to 4 years. In incomplete forms of Denys-Drash syndrome, DMS may occur in association with either male pseudohermaphroditism or nephroblastoma. Denys-Drash syndrome is usually sporadic. Constitutional mutations in the Wilms tumour predisposing gene, WT1, most of which are located in exons 8 and 9, have been described in the majority of patients with Denys-Drash syndrome. The WT1 gene encodes a zinc-finger protein, which is probably a transcription factor involved in renal and genital development. Mutations are dominant, as patients are usually heterozygous. As mutations in the WT1 gene are in most cases de novo, the risk of reoccurrence in another sibling is extremely low. Careful renal ultrasonography, looking for nephroblastoma, should be performed in any patient found to have DMS. Treatment is supportive and consists of adequate nutrition, prevention and treatment of infectious complications, and management of renal failure. The nephrotic syndrome is resistant to corticosteroids and immunosuppressive drugs but does not recur in the graft after kidney transplantation.

    Also Known As

  • Drash syndrome
  • Wilms tumour or pseudohermaphroditism
  • Related ICD 10 COde
    ICD 10 Code E29

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    Klinefelter syndrome

    Karyotype 47 XXY; gonads: testes (hypogonadism) small and firm with decreased spermatogenesis ; phenotype male with associated congenital abnormalities (decreased virilization due to decreased testosterone production, long arms and legs, short trunk, psychosocial problems)

    Where It Occurs

    Skin System (Integumentary System)

    Also Known As

  • klinefelter syndrome karyotype 47, xxy
  • xxy syndrome
  • Related ICD 10 COde
    ICD 10 Code Q98.0

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    Leydig cell hypoplasia

    This is a rare autosomal recessive genetic and endocrine syndrome, characterized by an inability of the body to respond to luteinizing hormone (LH), a gonadotropin which is normally responsible for signaling Leydig cells of the testicles to produce testos. This diagnosis is due to complete LH receptor inactivation.
    Related ICD 10 COde
    ICD 10 Code E29

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    Related ICD 10 COde
    ICD 10 Code E29

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