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Primary Amenorrhea


  • In absence of secondary sexual characters, no menses till the age of 14 years.
  • In presence of secondary sexual characters, no menses till the age of 16 years.
  • MC cause of primary amenorrhea is ovarian dysgenesis/ Turner syndrome.
  • Mullerian agenesis (Rokitansky-Mayer-Kustner-Hauser or RMKH syndrome) is the second MC cause and androgen insensitivity syndrome or testicular feminizing syndrome (AIS/TFS) is the third MC of primary amenorrhea.
  • Each and every case of primary amenorrhea karyotyping should be done.


Before going into the details of primary amenorrhea lets first understand the basic requirement for a female to menstruate normally.

  • An intact outflow tract which connects the uterine cavity with outside and a normally developed uterus with its endometrium lining.
  • Proper quantity and sequence of steroid hormones i.e. estrogen and progesterone which inturn originate from ovary.
  • The maturation of follicular apparatus is guided by gonadotropins
  • FSH and LH (released by pituitary).
  • The secretion of these hormones is inturn dependant on gonadotropin releasing hormone (re-leased by hypothalamus).

So, broadly we can classify the causes of amenorrhea into the following compartments.


Compartment I Disorders of the out flow tract or uterine target organs.


Compartment II Disorders of the Ovary


Compartment III Disorders of the Pituitary


Compartment IV Disorders of the CNS (hypothalamic) factors.


Major Causes of Primary Amenorrhea (Compartment Wise)


Compartment I

(Disorders of outflow tract / uterus)

Mullerian Anomalies (2nd MIC cause of primary amenorrhea)

Androgen insensitivity syndrome (Testicular feminization syndrome)

Compartment II

(Disorders of ovary)

Gonadal dysgenesis (MIC cause of Primary Amenorrhea

Turners syndrome: 45XO

Pure gonadal dysgenesis: 46 XX

Swyers syndrome: 46 XY

Savage syndrome: Resistant ovary syndrome

Compartment III (Disorders of Anterior Pituitary)


Prolactinomas /Craniopharyngiomas

Hypopituitary states - Simmond's disease

Chiari Frommel syndrome

Forbes Albright syndrome (Not very important)

Compartment IV (Disorders of CNS)

Kallman syndrome (Amenorrhea + Anosmia)

Adrenal hypoplasia

The details of Mullerian agenesis (MRKH syndrome), testicular feminizing syndrome, and Turners syndrome have been dealt in previous chapters.

  • In the entire gynecology, these are only two conditions in which there is primary amenorrhea and absent uterus:


Mullerian Agenesis (RMKH)

Complete Androgen Insensitivity Syndrome (CAIS)






Testes (inguinal)

Axillary /pubic hair


Absent/ sparse

Associated anomalies

Renal and skeletal/vertebral defects and



deafness may be present



Possible with surrogacy as ovaries function

normally (they can have their own biological child)

Not possible but gonadectomy, vaginoplasty, and ERT are required

Breasts are well-developed in both the above cases.


Key points about CAIS:

  • They do not have ambiguous genitalia at birth. The external genitalia look like females.
  • Testes secrete testosterone and anti-Mullerian hormone or Mullerian inhibiting factor (AMH/MIF),
  • but testosterone functions are absent (as receptors are insensitive).
  • Since the testes have a risk of developing gonadoblastoma/seminoma, orchidectomy should be done.
  • Vaginoplasty should be done for sexual activity and estrogen replacement therapy (ERT) given for bone protection and maintenance of secondary sexual characters.
  • Patients of CAIS should be continued to be reared as females.

Kallmann syndrome


Genetic condition characterised by hypogonadotropic hypogonadism (hypothalmic failure) and anosmia

  • GnRH levels - absent Secondary sexual characteristics, anovulation, infertility anosmia
  • Diminished response to GnRH stimulation test

Management: Cyclical estrogen + progesterone therapy or

Work up a case of 10 Ameno


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