The following are differential diagnoses separated into primary and secondary amenorrhea, respectively.
Primary amenorrhea
Congenital malformations, deformities, and chromosomal abnormalities (Q00-Q99).
- Laurence-Moon-Biedl-Bardet syndrome (LMBBS) – rare genetic disorder with autosomal recessive inheritance; differentiated by clinical symptoms into:
- Laurence-Moon syndrome (without polydactyly, i.e., without the appearance of supernumerary fingers or toes, and obesity, but with paraplegia (paraplegia) and muscle hypotonia/reduced muscle tone) and
- Bardet-Biedl syndrome (with polydactyly, obesity and peculiarities of the kidneys).
- Mayer-von-Rokitansky-Küster-Hauser syndrome (MRKH syndrome or Küster-Hauser syndrome) – genetic disorder with autosomal dominant inheritance; congenital malformation of the female genitalia due to inhibition malformation of the Müller ducts in the second embryonic month. Ovarian function (estrogen and progestin synthesis) is not impaired, allowing normal development of secondary sexual characteristics.
- Ovarian hypoplasia – underdevelopment of the ovaries due to various diseases such as Turner syndrome (gonadal dysgenesis).
Endocrine, nutritional and metabolic diseases (E00-E90).
- Adrenogenital syndrome (AGS) – autosomal recessive inherited metabolic disease characterized by disorders of hormone synthesis in the adrenal cortex. These disorders lead to a deficiency of aldosterone and cortisol; mean incidence (frequency of new cases) worldwide of 1: 14,500; most common clinical picture among the disorders of sexual differentiation (DAD); female karyotype (46, XX) with virilization (masculinization) of the external genitalia (due toprenatal androgen excess).
- Kallmann syndrome (synonym: olfactogenital syndrome) – genetic disease that can occur sporadically, as well as inherited autosomal dominant, autosomal recessive and X-linked recessive; symptom complex 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.
Genitourinary system (kidneys, urinary tract – reproductive organs) (N00-N99).
- Hymenal atresia (lack of opening of the hymen).
- Vaginal aplasia – embryonically not created vagina.
Secondary amenorrhea
Congenital malformations, deformities, and chromosomal abnormalities (Q00-Q99).
- Laurence-Moon-Biedl-Bardet syndrome (see above).
- Ovarian hypoplasia – underdevelopment of the ovaries due to various disorders such as Turner syndrome (gonadal dysgenesis).
Endocrine, nutritional and metabolic diseases (E00-E90).
- Obesity (overweight)
- Acromegaly – hypersecretion of somatotropin with increase in size of the body end limbs or acra.
- Diabetes mellitus type 1
- Hashimoto’s thyroiditis – autoimmune disease leading to chronic thyroiditis.
- Hemochromatosis (iron storage disease) – genetic disease with autosomal recessive inheritance with increased deposition of iron as a result of increased iron concentration in the blood with tissue damage.
- Hyperandrogenemia (increase in male sex hormones in the blood).
- Hyperprolactinemia (increase in prolactin levels in the blood).
- Hyperthyroidism (hyperthyroidism)
- Hypothyroidism (hypothyroidism)
- Addison’s disease (primary adrenocortical insufficiency).
- Cushing’s disease – group of diseases that lead to hypercortisolism (hypercortisolism) – oversupply of cortisol.
- Polycystic ovary syndrome (PCO syndrome) – cyst formation in the ovary, which leads to impaired hormonal function [about 25% of all women with secondary amenorrhea].
- Post-pill amenorrhea – absence of menstruation after stopping the use of contraceptives (contraceptives).
- Sheehan syndrome – acquired anterior pituitary insufficiency (HVL insufficiency)/insufficient hormone production by the anterior lobe of the pituitary gland (= “secondary empty sella syndrome (SES)).
- Premature ovarian failure – ovarian function depletion with progressive follicular atresia (non-formation of follicles).
Liver, gallbladder, and biliary tract-pancreas (pancreas) (K70-K77; K80-K87).
- Cirrhosis of the liver – irreversible damage to the liver leading to gradual connective tissue remodeling of the liver with impairment of liver function.
Neoplasms – tumor diseases (C00-D48).
- Arrhenoblastoma – very rare, usually unilateral (one-sided) tumor of the ovary, produces androgens and thus leads to androgenization symptoms (hirsutism/male distribution pattern of terminal hair, seborrhea/overproduction of skin oils, clitoral hypertrophy/unusually large clitoris, voice changes; hyperandrogenemic ovarian insufficiency).
- Pituitary tumors (tumors of the pituitary gland).
- Ovarian tumors (ovarian tumors), without further details.
- Prolactinoma – benign neoplasm of the anterior pituitary gland (pituitary gland).
Psyche – nervous system (F00-F99; G00-G99).
- Anorexia nervosa (anorexia nervosa)
- Bulimia nervosa (binge eating disorder)
- Inflammation in the area of the hypothalamus
- Pituitary tumors (tumors of the pituitary gland).
- Hypothalamus tumors (tumors of the diencephalon).
Symptoms and abnormal clinical and laboratory findings not elsewhere classified (R00-R99).
- Abnormal weight loss (>10%).
Genitourinary system (kidneys, urinary tract – reproductive organs) (N00-N99).
- Asherman syndrome – loss of the endometrium (lining of the uterus) due to severe inflammation or trauma (e.g., after forced curettage).
- Chronic renal insufficiency (kidney weakness).
Medication
- Antipsychotics (neuroleptics) such as haloperidol.
- Appetite suppressants – such as fenfluramine.
- Hormones
- GnRH analogues (goserelin acetate, leuporelin acetate, buderelin acetate, nafarelin acetate, triptorelin acetate).
- Hormonal contraceptives (minipill, three-month injection, intrauterine device with progestin/progestin coil).
- Progesterone receptor modulator (Ulipristal).
- See under drug side effects: “Hyperprolactinemia due to medications.”
- Spironolactone (aldosterone antagonist).
- Cytotoxic substances (condition n. Chemotherapy).
Further
