Gynecomastia: Or something else? Differential Diagnosis

The diagnosis of gynecomastia is a diagnosis of exclusion! Congenital malformations, deformities, and chromosomal abnormalities (Q00-Q99).

  • Klinefelter syndrome – a numerical chromosomal aberration (aneuploidy) of the sex chromosomes occurring only in boys or men, which is manifested mainly by tall stature and testicular hypoplasia (testes too small ) – caused by hypogonadotropic hypogonadism(hypofunction of gonads).
  • Cryptorchidism (testicle is not palpable and has an intra-abdominal location) associated with hypogonadism (gonadal hypofunction).
  • McCune-Albright syndrome (MAS) – is one of the neurocutaneous syndromes; clinical triad: fibrous bone dysplasia (FD), café-au-lait spots (CALF) of the skin (light brown, uniform skin patches of varying size), and pubertas praecox (PP; premature onset of puberty); later onset endocrinopathies with hyperfunction, eg. For example, hyperthyroidism (hyperthyroidism) and increased secretion of growth hormone, Cushing’s syndrome and renal phosphate loss.
  • Reifenstein syndrome – genetic disease (see above under partial androgen resistance).
  • Pseudohermaphroditism – conditions in which chromosomal sex and gonadal sex (which determine internal genitalia) do not match genital sex (external genitalia) and secondary sexual characteristics.

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

  • Androgen inactivity syndrome
  • Acromegaly – hypersecretion of growth hormone; there is an increase in the size of the body end limbs or acra.
  • Hyperprolactinemia – pathological (pathological) increase in the level of prolactin.
  • Hyperthyroidism (hyperthyroidism).
  • Hypogonadism (gonadal hypofunction: primary (hypergonadotropic) hypogonadism; secondary and tertiary (hypogonadotropic) hypogonadism).
  • Hypothyroidism (hypothyroidism).
  • Graves’ disease – form of hyperthyroidism (hyperthyroidism) caused by autoimmune disease.
  • Partial androgen resistance (synonyms: Partial androgen insensitivity syndrome, PAIS; Reifenstein syndrome) – genetic disorder with X-linked recessive inheritance in which the male androgen receptor functions inadequately; individual is genetically a male (XY sex chromosomes), the sex organs are male differentiated and androgens are also produced; the site of action of these hormones, the androgen receptor, functions inadequately or not at all; effects depend on the degree of androgen resistance: they range from gynecomastia, hypospadias (congenital anomaly of the urethra; this does not end at the tip of the glans but, depending on the severity of the degree, at the underside of the penis), micropenis (small penis), azoospermia (absence of spermatozoa in the semen) or/and cryptorchidism (absence of one or both testicles in the scrotum (not palpable) or the testicle has an intra-abdominal location (retentio testis abdominalis; Abdominal testis) or is absent (anorchia)) or inguinal testis to testicular feminization, ie. i.e. the formation of male sexual characteristics (penis, hair type, etc.) omits completely, the individuals grow up as girls
  • Malnutrition

Skin and subcutaneous tissue (L00-L99)

  • Lymphadenosis cutis benigna (Bäfverstedt syndrome) – occurrence of nodular or areal skin infiltrates; occur after tick bite, injury, or viral infection.

Cardiovascular system (I00-I99).

  • Venous/lymphatic outflow disorders in the chest region.

Infectious and parasitic diseases (A00-B99).

  • Inflammatory reactions in the region of the mamma (breast).
  • Leprosy (due totesticular atrophy; “shrunken testicles“).

Liver, gallbladder, and bile ducts-pancreas (pancreas) (K70-K77; K80-K87).

  • Liver cirrhosis – irreversible damage to the liver leading to gradual connective tissue remodeling of the liver with impairment of liver function.

Neoplasms – tumor diseases (C00-D48).

  • Bronchial carcinoma (lung cancer; in the setting of a paraneoplastic syndrome).
  • Benign neoplasms of the mamma (breast) such as fibromas, lipomas, cysts.
  • Testicular carcinoma (7% of cases, mainly non-seminomas).
  • Hypernephroma (renal cell carcinoma).
  • Germ cell tumors: chorionic carcinomas, embryonal carcinomas, teratomas.
  • Hepatocellular carcinoma (liver cancer)
  • Leydig cell tumors of the testis
  • Mammary carcinoma (breast cancer)
  • Adrenal tumor, unspecified

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

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

  • Injury to the chest resulting in the formation of a hematoma (bruise)

Medication

  • See “Causes” under medications

Further