The classification of amenorrhea

The classification of amenorrhea

Amenorrhea is defined as the absence of menses for 6 consecutive  months. Primary amenorrhea refers to a female who has never menstru­ated. Secondary amenorrhea is the cessation of menses after previous normal menses.

 

 The Classification of Amenorrhea
Physiologic
Pathologic
Primary:
 Gonadal abnormalities
Gonadal dysgenesis (Turner’s syndrome)
Pure gonadal dysgenesis
XY gonadal dysgenesis (Swyer’s syndrome)
Mixed gonadal dysgenesis
Ovarian insensitivity syndrome (Savage syndrome)
17-OH deficiency
 Extragonadal abnormalities
Congenital anatomic defect of genital tract
Male pseudohermaphroditism
Female pseudohermaphroditism
Abnormal hypothalamic-pituitary function
 Secondary with the following:
 Normal ovarian function
 Increased gonadotrophins
 Normal or decreased gonadotrophins
Psychogenic
Weight related
Exercisie induced
Pseudocyesis
Postpill
Central nervous system lesions
Endocrinopathies
Drug induced
Acute or chronic illness
Estrogen-producing tumors
 Androgen excess

 

  1. Physiologic amenorrhea

 

  1. Physiologic amenorrhea can occur shortly after menarche, during pregnancy and lactation, and after menopause.

 

  1. All states except pregnancy are associated with a hypoestrogenic state with all the attendant clinical ramifications.

 

  1. Confirmation is with pregnancy test and pelvic examination.

 

 

 

  1. Primary amenorrhea

 

  1. Absence of menses after age 16 indicates primary amenorrhea.

 

  1. Absence of pubertal development before age 14 may also indicate gonadal dysfunction.

 

  1. Gonadal abnormalities

 

  • Of patients with primary amenorrhea, 60% have gonadal abnormalities:
    • Failure of gonadal differentiation
    • Inappropriate gonadal function during fetal and neonatal life; usually results in abnormal external genitalia

 

  • Up to one third of primary amenorrhea patients may be genetic males.

 

  • If a Y chromosome is present in dysgenic gonads, the gonads need to be removed for prophylaxis against malignant degen­eration. Karyotyping is therefore an important part of the workup.

 

  • Gonadal dysgenesis (Turner’s syndrome).

 

  • 1:2700 of newborn phenotypic females
  • Karyotypes: 45X, 45X/46XX, 45X/46XY
  • Clinical features are as follows:
    • Short stature (< 150 cm)
    • Webbed neck
    • Shield chest

 

 

High-arched palate

 

  • Neck hairline low
  • Cubitus vulgus
  • CVS and renal abnormalities
  • Gonads replaced by streaks of fibrous tissue in stroma without germ cells

(ix) May have transient ovarian function if mosaic with 46XX; therefore variable sexual maturation (5) Pure gonadal dysgenesis (all sexually immature).

  • Height greater than 150 cm
  • Karyotyp 46XX or 46XY

Streak gonads

  • Increased incidence in siblings
  • Higher incidence of Y chromosome presence than in Turner’s syndrome
    • XY gonadal dysgenesis (Swyer’s syndrome).
      • Phenotypic females; normal female external and internal genitalia
      • Karyotype XY
      • Streak gonads; high incidence of malignant degeneration
    • Mixed gonadal genesis (rare).
      • Germ cell tumor or testis on one side and streak or no gonad on the other
      • Abnormal external genitalia with pubertal virilization
      • Y gonad: should be removed immediately
    • Ovarian insensitivity syndrome (Savage syndrome).
      • Phenotypic females, normal external and internal genita­lia, and normal appearing ovaries
      • Functional ovarian failure resulting from possible receptor defect that makes them unresponsive to gonadotrophins
    • 17-OH deficiency: unable to synthesize androgens, estrogens,and some adrenal steroids
  • Infantile external genitalia
  • Hypertension, hypokalemic alkalosis
  • Increased desoxycorticosterone, follicle stimulating hor­mone (FSH), luteinizing hormone (LH), and progesterone
  • Ovarian function: cannot be restored
  1. Extragonadal anomalies account for 40% of primary amenorrhea.

 

There is normal ovarian functional capacity.

  • Congenital anatomic defect of the genital tract
  • Failure of normal Miillerian or urogenital sinus differenti­ation may lead to outlet obstruction or uterine agenesis.
  • Phenotypic and genotypic females with normal external genitalia.
  • Congenital absence of uterus and upper vagina is the most common defect (Mayer-Rokitansky-Kuster-Hauser syn­drome). Incidence is 1:4000 female births. There is an association with renal abnormalities.
  • Imperforate hymen or agenesis or stenosis of the proximal vagina, distal vagina, or cervix and transverse septa of the vagina are also contributing causes.
  • Outlet obstruction results in retained menses with subse­quent cyclic pain, hematocolpos, hematometra, and endometriosis.
  • Physical examination and ultrasound will often make the diagnosis. Intravenous pyelogram (IVP) should be ordered.
  • Surgical correction of the lower tract is often possible and should be done as soon as possible.
    • Male pseudohermaphroditism
  • Male pseudohermaphroditism results from inadequate androgenic influence on the development of external gen­italia in a genetic male.

 

  1. Androgen insensitivity syndrome or testicular feminization (absence of testosterone receptors) is the most common cause. Clinical features include the following:
    1. Normal external genitalia
    2. Blind vagina
    3. Absent uterus
    4. Scant pubic or axillary hair
    5. Normal breasts with immature, pale areolae
    6. Often inguinal testis
  2. Testosterone levels are in the normal male range with normal gonadotrophins.
  3. Incomplete forms result from the presence of some func­tional androgen.
    1. Chromosomal abnormalities are often found. The spectrum varies from almost normal males with minor abnormalities of the external genitalia to almost normal females with Turner’s syndrome manifestations.
    2. Causes include chromosomal mosaicism (45X and a cell line with a Y chromosome).
    3. Enzymatic anomalies if steroid production with androgen overproduction, incomplete androgen insensitivity syndrome, hypospadias, multiple malfor­mation syndromes, Mullerian derivative persistence, agonadia, and Leydig Cell agenesis.
    4. Breast development must always raise the suspicion of an estrogen-producing tumor.
      • Female pseudohermaphroditism
        • Female pseudohermaphroditism results from anomalous production of androgen in genetic females.
        • Congenital adrenal hyperplasia is the most common cause, usually secondary to 21-hydroxylase or 11-beta-hydroxylase deficiency. Incomplete forms may manifest as amenorrhea in virilized females. Adequate treatment results in normal menses.
        • Androgen-producing tumors of the adrenals and ovaries can also result in virilization of external genitalia and amenorrhea.
      • Hypothalamic—pituitary dysfunction
        • Destruction or abnormal development of the hypothalamus or anterior pituitary would result in hypogonadotrophic hypogonadism.
        • Craniopharyngiomas are the most common destructive lesion in this area, but primary and metastatic lesions need to be ruled out if this diagnosis is being considered. These are uncommon causes of primary amenorrhea.

Kallmann’s syndrome: isolated gonadotrophin deficiency with anosmia.

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