Primary AmenorrhoeaPrepared by Professor Dr.Lilyan Sersam

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Presentation transcript:

Primary AmenorrhoeaPrepared by Professor Dr.Lilyan Sersam

Primary amenorrhoea: is lack of menstruation by the age of 16. Secondary amenorrhoea: is an absence of menstruation for 6 months.

Primary amenorrhoea Amenorrhoea is considered to be primary in a girl who has never menstruated. It can be divided into: Anatomical Endocrine or Constitutional For the purpose of investigations it is classified into: 1. Those with normal secondary sexual characteristics. 2. Those with absent secondary sexual characteristics.

Primary amenorrhoea Primary amenorrhoea is, therefore, best described as the absence of menstruation by 16 years of age irrespective of the presence or absence of secondary sexual characteristics.

Primary amenorrhoea Aetiology Secondary sexual characteristic normal Imperforate hymen Transverse vaginal septum Absent vagina and functioning uterus Absent vagina and non-functioning uterus XY female – Androgen insensitivity Resistant ovary syndrome Constitutional delay

Primary amenorrhoea Aetiology Secondary sexual characteristic absent ● Normal stature: Hypogonadotrophic hypogonadism Congenital ( Isolated gonadotrophin-relesasing hormone deficiency, Olfactogenital syndrome ) Acquired ( Weight loss/anorexia, excessive exercise, Hyperprolactinaemia ) Hypergonadotrophic hypogonadism Gonadal agenesis XX agenesis XX or XY agenesis Gonadal dysgenesis Turner mosaic Other X deletions or mosaic XY enzymatic failure Ovarian failure Galactossaemia

Primary amenorrhoea Aetiology Secondary sexual characteristic absent ● Short stature: Hypogonadotrophic hypogonadism Congenital ( Hydrocephalus ) Acquired ( Trauma, empty sella syndrome, tumours ) Hypergonadotrophic hypogonadism Turners syndrome Other X deletions or mosaic

Primary amenorrhoea Aetiology Heterosexual development Congenital adrenal hyperplasia Androgen-secreting tumour 5α Reductase deficiency Partial androgen receptor deficiency True hermaphrodite

Clinical features of Turners syndrome: Short stature. Low hairline. Fold of skin on neck. Constriction of aorta Underdeveloped breasts. Shield-shaped thorax. Elbow deformity. Rudimentary ovaries. No menstruation. Shortened metacarpal IV. Small finger nails. Brown spots (nevi) on skin.

Evaluation and management: Full history: Other sibling Cyclical pain Hirsutism Sexual history Medical disorders Medications Previous radiotherapy Chemotherapy Weight gain or loss Examination: General Height Weight BMI Secondary sexual characteristics Exclude anatomical causes Endocrine disease stigmata Stigmata of chromosomal conditions Abdominal examination Avoid internal examination if virgin

Investigations: Pregnancy test Pelvic USS, CT scanning and MRI LH ( baseline ) FSH ( baseline ) SHBG TFT Prolactin levels Oestradiol Testosterone Karyotyping Progesterone challenge test

Management is based on the aetiology, and the presence or absence of secondary sexual characteristics. The presence of normal secondary sexual characteristics should alert the clinician to the concept that outflow tract obstruction may be occurring. This is the most common cause of primary amenorrhoea in the presence of normal secondary sexual characteristics. It is simple to arrange for pelvic ultrasound to assess pelvic anatomy. Rarely we may need to use MRI or CT scanning. If the uterus is absent then karyotype should be performed and if this is 46XX then the Rokitansky syndrome is the most likely diagnosis. If 46XY the patient is XY female. If the uterus is present on ultrasound then there may be an associated Haematocolpos and haematometra and appropriate reconstructive surgery should be performed.

If pelvic anatomy is normal assess: Gonadotrophins & Prolactin levels. This indicate hypothalamic cause for amenorrhoea, the so called Constitutional delay. In some cases LH/FSH ratio may be elevated in PCOS. If Gonadotrophins are elevated think of Resistant ovary syndrome. Elevation of prolactin indicate Prolactinoma. Ovarian biopsy if suspect Resistant ovary syndrome. Histopathology illustrating absence of oocytes. CT or MRI imaging of pituitary fossa if elevated serum prolactin levels ( Microadenoma ).

Absent uterus: Girl managed by special psychological councelling as got problem regarding their future sexual activity & infertility. Vagina is created at appropriate time ( Vaginoplasty ) by surgical or non- surgical way using vaginal dilators. Girl with XY Karyotype: Councelling over malignant potential of their gonads ( Gonadectomy ).

Outflow obstruction: Surgical management Imperforate hymen; Cruciate incision. Transverse Vaginal Septum; Excision.

If constitutional delay: and secondary sexual characteristics are complete no need to suggest any treatment apart from annual review, some use COC pills to promote menstruation as this will reassure her that menstruation can occur. If Microadenoma: then treatment is with Bromocriptine or Cabergoline.

Absence of secondary sexual characteristics, Assess patient’s height: If normal height for age: assess & measure Gonadotrophins. Either low or high. Low levels confirm Hypogonadotrophic Hypogonadism. Elevated levels confirm & provoke clinician to perform Karyotyping. 46XX: Mean Resistant Ovary Syndrome or Premature Ovarian Failure or Gonadal Agenesis. 46XY: Mean XY Female will have 46XY Gonadal Agenesis or Testicular Enzymatic Failure.

If short stature, Do Gonadotrophins Measurement. If low; Intracranial lesion Or high; Turners Syndrome or Turners mosaic. Managemant: If Hypogonadotrophic Hypogonadism HRT- to induce secondary sexual characteristic development. Future need for ovulation induction as they will be infertile. Oestrogen used alone for 2 years and then 2-3 years of gradual introduction of progestogens thereby establishing normal breast growth.

THANK YOU