Klinefelter Syndrome: Or something else? Differential Diagnosis

Congenital malformations, deformities, and chromosomal abnormalities (Q00-Q99).

  • Prader-Labhart-Willi syndrome (PWS; synonyms: Prader-Labhard-Willi-Fanconi syndrome, Urban syndrome, and Urban-Rogers-Meyer syndrome) – genetic disorder with autosomal dominant inheritance occurring in approximately 1 in 10,000 to 1 in 20. 000 births occurs; characteristic are, among other things, a pronounced overweight with a lack of a sense of satiety, short stature and reduced intelligence; in the course of life, diseases such as diabetes mellitus type 2 occur due to obesity.

Endocrine, nutritional and metabolic diseases (E00-E90).

  • Idiopathic hypogonadism (hypogonadism of the gonads), the cause of which is unknown
  • Kallmann syndrome (synonym: olfactogenital syndrome) – genetic disorder that can occur sporadically, as well as be inherited in an autosomal dominant, autosomal recessive, and X-linked recessive manner; symptom complex consisting of hypo- or Anosmia (decreased to absent sense of smell) in conjunction with testicular or ovarian hypoplasia (defective development of the testis or ovaries, respectively); prevalence (disease frequency) in males 1: 10,000 and in females 1: 50,000.
  • Lipomatosis – occurrence of multiple lipomas (fat growths).
  • Cushing’s disease – disease in which too much ACTH is produced by the pituitary gland (pituitary gland); resulting in increased stimulation of the adrenal cortex with the consequence of excessive cortisol production.

Musculoskeletal system and connective tissue (M00-M99).

  • Osteoporosis (bone loss)
  • Scoliosis – lateral curvature of the spine.

Neoplasms – tumor diseases (C00-D48)

  • Testicular tumors, unspecified

Genitourinary system (kidneys, urinary tract – reproductive organs) (N00-N99).

Injuries, poisonings, and other consequences of external causes (S00-T98).

  • Condition following bilateral castration (removal of gonads).
  • Condition after bilateral testicular trauma – bilateral testicular injury.