Amenhorreha

Clinical Scenario
A 16-year old girl presents with her mother, complaining she has never
had a menstrual period. All of her friends have menstruated, and the
mother is concerned about her daughter’s predicament. On
examination she seems to be well-nourished, with normal breast
development and pubic hair present. Pelvic examinations reveals a
rudimentary vagina. No uterus palpable on digital rectal examination
 History
• Marital Status
• Menopausal symptoms
• History of PID
• TB
• Headaches
• Visual symptoms
• Galactorrhea
• Life stresses
• Extreme exercise routine
 Examination and Investigation

Examination Investigation
• General physical exam • Beta hCG
• Breast exam • FSH
• Thyroid exam • LH
• Visual field exam • TSH
• Speculum + bimanual exam • Prolactin
• Pelvic Ultrasound
Diagnosis?
Primary amenorrhea

1. Absence of menstrual bleeding at age 14 without secondary sexual

characteristics
2. Absence of menstrual bleeding at age 16 with development of secondary
sexual characteristics

Breast development, axillary and pubic hair, growth

Breast development is an endogenous assay of estrogen
Presence of pubic hair indicates androgen sensitivity
 Etiology Overview

Anatomic Hormonal
Vaginal agenesis/ vaginal septum Complete androgen insensitivity

Imperforate hymen Gonadal dysgenesis

Mullerian agenesis Hypothalamic pituitary insufficiency

 Etiologies
1. Vaginal agenesis/septum Breasts present
2. Imperforate hymen Uterus present

Breasts present
3. Mullerian agenesis
Uterus absent
4. Androgen insensitivity

Breasts absent
5. Gonadal dysgenesis Uterus present
6. HPO axis failure
 Breasts Present, Uterus Present
DDX
i. Imperforate hymen (anatomic)
ii. Vaginal septum (anatomic)

Diagnosis
• History and physical examination will identify the majority of specific
diagnoses.
• Workup should proceed as for secondary amenorrhea if clinical diagnosis not
possible
Management: Surgical
 Imperforate Hymen
• Hymen is a thin membrane usually covering part of the opening of the vagina.

• Imperforate hymen is when the hymen covers the whole opening of the vagina.

• Most common type of blockage of the vagina.

• May have cyclical pain without menstruation

• Idiopathic
 Vaginal Septum
• Vagina forms form the fusion of the urogenital sinus and Mullerian
ducts

• Transverse Vaginal Septum: Lack of patency between the urogenital

sinus and Mullerian duct. Seen on speculum exam

• Longitudinal Vaginal Septum: Failure of fusion of the two Mullerian

ducts
 Breast Present, Uterus Absent
DDX
i. Mullerian Agenesis

ii. Androgen insensitivity

 Mullerian Agenesis
• Genetically normal females (46,XX) with idiopathic absence of
Mullerian duct derivatives

• Secondary sexual characteristics develop normally; intact ovaries

• Normal pubic and axillary hair, low testosterone levels

• Management: Surgical elongation of the vagina

 Androgen insensitivity
• Genetically male (46,XY) with complete lack of androgen receptor function

• Atrophy of Wolffian duct structures

• MIF (Sertoli cells) causes involution of Mullerian duct derivatives

• External genitalia have female phenotype and patients function psychologically and physically as females

• Secondary sexual characteristics present due t estrogen from the testes

• No pubic or axillary hair, high (male) testosterone levels

• Management: Testes removal at age 20 dye to increased risk of malignant transformation, followed by
estrogen replacement therapy
 Mullerian Agenesis Vs. Androgen
Insensitivity
Breast Present Mullerian Agenesis Androgen Insensitivity
Uterus Absent (46,XX) (46,XY)

Uterus Absent Idiopathic MIF

Estrogen from Ovaries Testes
Pubic hair Present Absent
Testosterone levels Low (female) High (male)
Treatment No estrogen replacement Estrogen
Surgical creation of vagina Surgical Creation of vagina
Remove testes age 20
 Breasts absent, uterus present
DDX
i. Gonadal dysgenesis (Turner syndrome)

ii. Hypothalamic-pituitary failure

• FSH level and karyotyping play an important role in the diagnosis

 Gonadal dysgenesis
Congenital developmental disorder of the reproductive system. Hypergonadotropic Hypogonadism

• Turner syndrome (45,X) is caused by partial or complete lack of one X chromosome. Seen in 1/2500 live female
births

• Patients develop streak ovaries

• FSH increased due to lack of feedback

• No secondary sexual characteristics seen. Short stature, webbing of neck

• Associated with aortic coarctation, IBD, deafness, renal anomalies and endocrine dysfunction

• Management: Estrogen and progesterone replacement for the development of secondary sexual characteristics
 Hypothalamic-Pituitary Failure
Hypogonadotropic Hypogonadism

• Caused by stress, anxiety, anorexia nervosa, excessive exercise, hypothalamic lesions, head trauma, drugs (HRT,
dopamine antagonists)

• No secondary sexual characteristics

• Uterus present as seen on ultrasound

• Low FSH

Kallman syndrome is due to the inability of the hypothalamus to produce GnRH, associated with anosmia. CNS
imaging needed. X linked recessive disorder

Management: Patients treated with estrogen and progesterone replacement therapy

 Gonadal dysgenesis Vs. HP axis failure
Breast Absent Gonadal dysgenesis HP Axis Failure
Uterus Present (45,X) (46,XX)

FSH levels High Low

Absence of Estrogen No ovarian follicles Follicles not stimulated
Ovaries Streak ovaries Normal
Fertility Treatment Protocol Estrogen and progesterone Estrogen and progesterone
Egg donor ovulation induction

Diagnostic Modalities – CNS imaging

 References
• Kaplan Step 2 CK
• Gynecology by Ten Teachers 20th Edition