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1,412 Possible Causes for Caused by Mutation in the DMX-like 2 Gene (DMXL2), Small Testicular Volume, Tall Stature

Did you mean: Caused by Mutation in the DMX-like 2 Gene (DMXL2, Small Testicular Volume, Tall Stature

  • Klinefelter Syndrome

    They concluded that the decline in serum testosterone may be related to the small testicular volume and Leydig cell loss near the scars after the procedures.[web.archive.org] These patients usually present with tall stature. We report a case of KS with short stature due to growth hormone deficiency.[ncbi.nlm.nih.gov] The treatment of men with Klinefelter syndrome has been thought to be limited by the small testicular volume, extensive tubular sclerosis, and high FSH typically found for[dx.doi.org]

    Missing: Caused by Mutation in the DMX-like 2 Gene (DMXL2)
  • Polyendocrine - Polyneuropathy Syndrome

    testicular volume SKIN, NAILS, HAIR: [Hair]; Partial frontal alopecia NEUROLOGIC: [Central nervous system]; Mental retardation, moderate; Dysarthria; Dystonia; Ataxia; Pyramidal[findzebra.com] stature, learning and reading disabilities, and other medical problems.[wikivisually.com] […] by mutation in the DMX-like 2 gene (DMXL2, 612186.0001) Description Hall (1965) described 5 families in which 14 cases of myxedema occurred in addition to the 5 probands.[findzebra.com]

  • Klinefelter Syndrome with XY/XXY Mosaic

    These features would include first and foremost small firm testes (low testicular volume), tall slender body habitus, and in some cases breast enlargement (gynecomastia) and[dermatologyadvisor.com] stature with eunuchoid features, and psychosocial morbidity. 1 3 How common is Klinefelter’s syndrome?[bmj.com] They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present.[icd10data.com]

    Missing: Caused by Mutation in the DMX-like 2 Gene (DMXL2)
  • 48,XXXY Syndrome

    Testicular volume is typically less than 10 ml in postpubertal 47,XXY individuals [ 5 ].[ojrd.biomedcentral.com] While often compared with 47,XXY/Klinefelter syndrome because of shared features including tall stature and hypergonadotropic hypogonadism, 48,XXYY, 48,XXXY and 49,XXXXY syndromes[unboundmedicine.com] Gonads Features that are constant in 47,XXY males are small, soft testes with elevated gonadotropins.[ojrd.biomedcentral.com]

    Missing: Caused by Mutation in the DMX-like 2 Gene (DMXL2)
  • XXXXY Syndrome

    Testicular volume is typically less than 10 ml in postpubertal 47,XXY individuals [ 5 ].[doi.org] While often compared with 47,XXY/Klinefelter syndrome because of shared features including tall stature and hypergonadotropic hypogonadism, 48,XXYY, 48,XXXY and 49,XXXXY syndromes[genetic.org] They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present.[fpnotebook.com]

    Missing: Caused by Mutation in the DMX-like 2 Gene (DMXL2)
  • 48,XXYY Syndrome

    In puberty and adult life, the main clinical characteristic that differentiates KS syndrome from X fragile syndrome is testicular volume, which is small in the first and big[scielo.br] It has similarities to 47, XXY Klinefelter's syndrome, with tall stature, micro-orchidism, hypergonadotropic hypogonadism and infertility in males.[ncbi.nlm.nih.gov] Testicular volume is typically less than 10 ml in postpubertal 47,XXY individuals [ 5 ].[ojrd.biomedcentral.com]

    Missing: Caused by Mutation in the DMX-like 2 Gene (DMXL2)
  • Hypogonadism

    […] testes – volume typically 3 Lack of secondary sexual characteristics Most common cause is Klinefelter syndrome Postpubertal hypogonadism Sexual – decreased libido, erectile[arupconsult.com] stature, especially if the legs are disproportionately long, gynecomastia, small or soft testes, and a eunuchoid body habitus) Considerations in the physical examination[emedicine.medscape.com] stature, reduced fertility , and development of breast tissue certain types of tumours certain types of autoimmune disorders.[yourhormones.info]

    Missing: Caused by Mutation in the DMX-like 2 Gene (DMXL2)
  • Marfan Syndrome

    It is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and sublaxation of the lens A hereditary disorder[icd9data.com] A nine-year-old girl was referred to our pediatric endocrinology clinic for tall stature.[ncbi.nlm.nih.gov] Her father, aunt and grandfather were of tall stature, characteristic of Marfan syndrome. On systemic evaluation, the patient was diagnosed as Marfan syndrome.[ncbi.nlm.nih.gov]

    Missing: Caused by Mutation in the DMX-like 2 Gene (DMXL2) Small Testicular Volume
  • Pneumothorax

    Spontaneous pneumothorax Primary (idiopathic or simple pneumothorax) Ruptured subpleural apical blebs Risk factors Family history Male gender Asthenic body habitus (slim, tall[amboss.com] Tall stature and low body mass index are also associated with higher rates of PSP.[web.archive.org] stature) (e.g., in Marfan syndrome) Smoking: 90% of cases; up to 20-fold increase in risk (risk increases with cumulative number of cigarettes smoked) Homocystinuria Secondary[amboss.com]

    Missing: Caused by Mutation in the DMX-like 2 Gene (DMXL2) Small Testicular Volume
  • Hypogonadotropic Hypogonadism

    Cryptorchid or maldescended testes and small testicular volume are clinical hallmarks of congenital hypogonadotropic hypogonadism (CHH) [ 1 ].[ijpeonline.biomedcentral.com] In addition the boy developed delay of puberty, bone age, and closure of the epiphyseal lines of long bones with tall stature.[ncbi.nlm.nih.gov] They tend to have tall stature and long legs and may have difficulties with speech and language development.[icd9data.com]

    Missing: Caused by Mutation in the DMX-like 2 Gene (DMXL2)

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