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Primary amenorrhea: is the absence of menstruation by the age of 14 when 2ry sexual characters are
absent or by the age of 16, in the presence of 2ry sexual characters.
Secondary amenorrhea: is cessation of menstruation for a length of time equivalent to 3 previous
cycle intervals or 6 months.
Delayed menarche: means spontaneous onset of menstruation in a woman older than 16 years in
absence of reproductive abnormalities.

I. Physiological amenorrhea

Before puberty: due to the low secretion of GnRH.
After menopause: due to depletion of ovarian follicles; thus lack of response to gonadotrophins.
During pregnancy: due to continuous estrogen and progesterone production without withdrawal.
During lactation: prolactin suppresses GnRH, renders the ovary refractory to the action of
gonadotrophins, and inhibits ovarian steroidogenesis.
Perimenarche: due to HPO axis immaturity.
Perimenopause: due to decreased ovarian follicles and increased resistance to gonadotrophins.

II. Pathological amenorrhea
A. Primary Amenorrhea
The most common causes are gonadal dysgenesis (43%), and Mllarian duct anomalies (15%).
Group A: Patients with well developed secondary sexual characters
Uterus present Uterus absent
Compartment I
(Outflow factor)
Compartment II
(Ovarian factor)
Compartment I
(Outflow factor)
Compartment II
(Ovarian factor)
Cryptomenorrhea Polycystic ovary
syndrome.
Mllerian agenesis Androgen insensitivity
syndrome
Group B: Patients with poorly developed secondary sexual characters
Compartment II
(Ovarian factor)
Compartment III
(Pituitary factor)
Compartment IV
(Hypothalamic factor)
Gonadal dysgenesis
Resistant ovary syndrome
Lorian syndrome
Empty sella syndrome
Gigantism (acidophil adenoma)
Kallman syndrome
Frolish syndrome
Laurance-Moon-Biedl syndrome
Group C: Patients with heterosexual characters
Ovarian causes Adrenal causes
Virilizing tumors Congenital adrenal hyperplasia
Androgen secreting tumors

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B. Secondary Amenorrhea
The most common cause of secondary amenorrhea is pregnancy then chronic Anovulation, hypothyroidism, and
hyperpolactinemia.

Compartment IV (Hypothalamic factor)
Functional causes Organic causes
Anorexia nervosa
Pseudocyesis
Severe exercise (Jogger's amenorrhea)
Mental disease/emotional stress
Postpill amenorrhea (Shearman
syndrome)
Tumors (craniopharyngioma)
Inflammation (meningitis, encephalitis)
Trauma (fracture skull)
Compartment III (Pituitary factor)
Functional causes Organic causes
Drugs causing hyperprolactinemia e.g.
tranquilizers, reserpine,
phenothiazines.
Trauma.
Infection.
Tumors either secreting prolactin
"prolactinoma", ACTH causing Cushing
syndrome or GH causing acromegaly.
Pituitary cachexia: Sheehan Syndrome and
Simmonds disease.
Compartment II (Ovarian factor)
Functional causes Organic causes
Polycystic ovary syndrome.
Premature ovarian failure.

Surgical removal (bilateral oophorectomy).
Destruction by radiotherapy, chemotherapy.
Androgen secreting tumors.
Compartment I (Uterine and outflow factor)
TB or post-irradiation or gangrenous endometritis.
Asherman syndrome.
Hysterectomy.
Acquired cryptomenorrhea due to cervical stenosis following amputation or cauterization.
General causes
Severe anemia, malnutrition, and obesity.
DM, Pulmonary TB, and chronic nephritis.
Thyroid disease (autoimmune thryroiditis & hypothyroidism).
Adrenal diseases (androgen secreting tumors, Addison disease).
Bronchogenic carcinoma (ACTH producing).

A point to explain:
Compartment I: Disorders of the outflow tract or uterine target organ.
Compartment II: Disorders of the ovary.
Compartment III: Disorders of the anterior pituitary.
Compartment IV: Disorders of central nervous system (hypothalamic) factors.

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I. History

History taking should cover the following topics carefully:
Pubertal history: did the patient have normal onset and progression of puberty?
Menstrual history: history of previous regular menstrual cycles and their characters.
History of present illness: the following points can help in diagnosis:

Complaint Possibility
New-onset headaches or visual changes Tumor of the CNS or pituitary gland
Spontaneous bilateral breast discharge Hyperprolactinemia
Heat or cold intol erance, wei ght changes Thyroid disease
Hot fl ashes and vaginal dryness Premature ovarian failure (POF).
Hirsutism and acne PCOS, or wit h late-onset CAH.
Cyclic pel vic pain Tract outlet obstruction
Exercise, weight loss, chronic illness, illicit drug use Hypothalamic amenorrhea
Anosmia Kallmann syndrome
Sexual acti vity Pregnancy

Contraceptive history:
COC users: postpill amenorrhea (3-6 months after pill stoppage) may occur in < 1% of users.
POC users: Amenorrhea associated with Injectables increases with time and persists after
stoppage for up to 9 months.
Medical history:
History of pelvic infection, radiation, chemotherapy, or other illness.
Any medications, especially those that increase prolactin levels such as antipsychotics.
Surgical history: prior intrauterine surgery e.g. D&C, and postoperative complications particularly
infection.
Family history: Important questions regarding family history include:

Hi story Significance
Premature cessation of menses or a history of autoimmune disease. Increased risk for POF
Family history of irregular menses, infertility, or hyperandrogenism PCOS
Sudden neonatal death in family members CYP21 gene mutation of CAH

Social history: exposure to environmental toxins, including cigarettes.

II. Examination

General examination: a thorough physical examination should include:
General appearance:
The following physical signs may give a clue for the diagnosis:


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2 Chapter 2: Menstrual disturbance
Physical finding Significance
Low BMI, with loss of tooth enamel (recurrent vomiting) Eating disorder
Midline facial defects e.g. cleft palate Associated defect of the anteri or pit uitary
Dysmorphic features (e.g., webbed neck, short stature) Turners syndrome
Voice deepening and male pattern baldi ng. Virilization
Acanthosis nigricans, hirsutism, or acne PCOS
Supraclavicul ar fat, abdominal striae with hypertension Cushi ng syndrome
Enlarged thyroid, del ayed reflexes, and bradycardi a Hypothyroidism
Bilateral galactorrhea Hyperprolactinemia

Assessment of secondary sexual character development (Tanner staging):

Staging Breast development Pubic hair development
Tanner 1 Prepubertal Prepubertal
Tanner 2 Breast bud stage, elevation of breast and
papill a; enlargement of areol a
Sparse long, slightly pigmented hair, along
labia
Tanner 3 Further enlargement of breast and areola. Dark, coarse and curled hai r, spreading
sparsely over mons pubis
Tanner 4 Areol a and papill a form a secondary
mound above level of breast
Hair adult in type, but no spread to medial
surface of thighs
Tanner 5 Mature stage, recession of areola to
breast contour
Adult in type and quantity, with horizont al
distribution ("feminine")

According to this, the following is the normal squeal for pubertal growth:

Breast development Pubic hair development Stage of development Age in years
1 1 Initial growth acceleration 8-10
2 1 Thelarche 9-11
2 2 Adrenarche 9-11
3 3 Peak growth 11-13
4 4 Menarche 12-14
5 5 Adult characteristics 14-16

Local examination:
Examination of the genitalia includes:
Sparse or absent female pubic hair: Lack of adrenarche or androgen insensiti vity syndrome
Male pattern of genital hair growth, noticeably clitoromegaly: Virilization
A pink moist vagina and cervical mucus: Evidence of estrogen production
Uterus above an obstruction at the level of the introitus or in the vagina by rectal examination:
suggesting hematocolpos

III. Investigations
The following algorithms show how to investigate a case of amenorrhea: primary/secondary


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Investigations for a case of primary amenorrhea


















Investigations for a case of secondary amenorrhea
























Assessment of secondary sexual characters
Serum FSH & LH
Pelvic Ultrasonography
Low FSH & LH (< 5
IU/L)
High FSH & LH (> 20,
> 40 IU/L)
Uterus absent Uterus present
Hypogonadotrophic
hypogonadism
Hypergonadotrophic
hypogonadism
CT and MRI for
hypothalamic and
pituitary evaluation
Karyotyping
46 XX
Premature
ovarian
failure
45 XO
Turner
syndrome
Karyotyping
46 XY
Mullarian
agenesis

45 XO
Androgen
insensitivity
syndrome
Outflow obstruction
Yes
Crypto-
meorrhea

No
Follow the
steps of
secondary
amenorrhea
Exclusion of pregnancy is the 1st step, if negative, check TSH &
prolactin
Both are normal Normal TSH, high prolactin
Progestogen
challenge test
Thyroid
disease
Prolactin
< 100 ng/mL
Prolactin
> 100 ng/mL
Withdrawal bleeding No withdrawal bleeding
Anovulation Estrogen/progestogen
challenge test
MRI to evaluate for
prolactinoma
Negative
Consider
other causes
Consider
other causes
Abnormal TSH
Withdrawal bleeding
No withdrawal bleeding
Uterine /Outflow
cause
FSH & LH
assessment
Low FSH & LH (< 5 IU/L) High FSH & LH (> 20, > 40 IU/L)
Hypogonadotrophic hypogonadism
CT and MRI for
hypothalamic and
pituitary evaluation
Hypergonadotrophic
hypogonadism

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O Laboratory Testing:
Exclusion of Pregnancy: (urinary or serum -hCG level) for all sexually active women.
C Hormonal withdrawal tests:

Progesterone withdrawal test Estrogen and Progesterone
withdrawal test
Test 10 mg of MPA is gi ven daily for 5
successive days, bleedi ng is expected
within 7-10 days.
CoCs are gi ven for 21 days then
stopped, This should be foll owed by
bleeding
Posi tive test Anovulation Intact uterus & patent out flow
Negative test Estrogen progesterone withdrawal is
indicated
If agai n fails to bleed, anatomical
abnormality is diagnosed
Drawbacks False positive results due to
fluctuating estrogen levels in early
stages ovarian failure that causes
some bleeding.
False negative results in women with
high androgen (PCOS and CAH),
due to atrophic endometrium

C GnRH stimulation test:
Indication: to differentiate hypothalamic from pituitary causes if gonadotrophin value is low.
Test: IV bolus injection of 100 g of GnRH followed by measurement of LH and FSH at 0, 15,
30, 45, and 60 minutes.
Result:
In hypothalamic disease: 3-10 fold increase in LH, 1.5-3 fold increase in FSH within 15-30
minutes (normal response).
In pituitary disease: absent response.
Serum Hormone Levels:
Indications: Any woman found to have a normal pelvic examination.
Tests:

Primary laboratory tests Secondary laboratory tests
Follicle-Stimulating Hormone (FSH):
Elevated level: (2 FSH levels > 40 mIU/mL at
least 1 month apart ) in ovari an failure.
Low l evel: hypothal amic-pit uitary dysfunction.
LH:FSH l evel ratios: > 2 in PCO pati ents
(60% of cases).
Prolactin and TSH: for thyroid dysfunction and
hyperprolactinemi a.
Serum testosterone (N= 20 to 80 ng/dL):
200 ng per dL: Hyperandrogenic chronic
Anovulation.
> 200 ng per dL: androgen-secreting tumor.
Serum DHEAS (N= 250-300 ng/dL):
700 ng per dL: Hyperandrogenic chronic
Anovulation
> 700 ng per dL: adrenal or ovarian tumor.
Serum 17-OH progesterone (N= < 200 ng/dL:
> 400 ng/dL: Consider adrenocorticotropic
stimulation test to diagnose CAH



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O Imaging Tests:
Sonography: for diagnosis of PCO, determination of the presence of the uterus.
C CT & MRI:
Indications: done for any patient with hypogonadotropic hypogonadism. Functional
hypothalamic amenorrhea is a diagnosis of exclusion.
Results: destructive disorders or infiltrative diseases of the hypothalamus or pituitary.
O Chromosomal Analysis: i ndicated in:
Patients with gonadal dysgenesis (up to age 35 years) to identify Y chromosome requiring bilateral
oophorectomy.
Patients with absent uterus for differentiation between AIS and Mullarian agenesis.
Patient with a familial history of POF.

General treatment
Proper di et, correction of weight, treatment of anaemi a,
chronic illness, psychotherapy if necessary.

Treatment of the cause
Anatomic abnormalities: surgical correction, if possible.
Hypothyroidism: thyroid repl acement.
Hyperprolactinemia: treatment of cause, dopamine agonists
Late-onset CAH: low-dose corticosteroi ds to partially block ACTH stimulation

Management according to patient complaint


Absence of menstruation only Infertility
















Hyperprolactinemic
anovul ation

WHO Class III
(Hypergonadotrphic
hypoestrogenic)
POF
WHO Class II
(Normogonadotrphic
normoestrogenic)
e.g. PCOS
WHO Class I
(Hypogonadotrphic
hypogonadal )
Hypothalamic/Pituitary
Hormonal treatment is gi ven if no response has
occurred following treatment of the cause or if no
cause has been identifi ed (functional)
COCs are gi ven cyclically for 3 successive cycles to
restore normal rhythm
Fertility usually regains after treatment of the cause.
However, POF is only treated with egg donation
which is prohibited in our count ries.
Induction of ovul ation is gi ven according to WHO
classification of causes of anovul ation
Pulsatile GnRH or
goadotrophins
Clomi phene citrate or
gonadotrophins
Egg donation
(prohi bited)
Dopamine agonists

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NIH definition (1990)
To include both of the following:
Oligo-ovulati on.
Hyperandrogenism and/or hyperandrogenemi a (with the exclusion of rel ated disorders)
ESHRE/ASRM (Rotterdam conference) definition (2003)
To include two out of three of the following:
Oligo or anovulation
Clinical and/or biochemical signs of hyperandrogenism
Polycystic ovaries (with the exclusion of related disorders)
ASRM = American Society of Reproductive Medicine; ESHRE = European Society of Human Reproduction and Embryology; NIH =
National Institutes of Health.

PCOS is the most common cause of chronic anovulation (4 to 12 %).

The underlying cause is unknown. It is suggested to be multifactorial and polygenic. Alterations in GnRH
pulsatility lead to preferential production of LH compared with FSH.

Hypothalamus

Alternation of GnRH release

Pituitary gland

LH:FSH ratio

Ovary (theca cells)

Androgen production







A point to explain: Insulin resistance is defi ned as a reduced gl ucose response t o a gi ven amount of i nsulin. It is
due to a post binding abnormality in insulin receptor-medi ated signal transduction.
Abnormal
feedback
Anovulation/
amenorrhea
Follicular
atresia
Skin
Converted in adi pose tissue
Estrone Abnormal lipi d profil e
Adrenal
gland
Acne, Hirsutism, acanthosis
negricans
Uterus
Endometrial
hyperplasia
Insuli n
resistance

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Short-term consequences Long-term consequences
Menstrual disturbance
Hyperandrogenism
Infertility
Obesity
Metabolic disturbances
Abnormal lipi d profil e/glucose intol erance
Diabetes mellitus
Cardiovascul ar disease
Endometrial cancer

Clinical picture:
I. Classic presentation
O Menstrual disturbance:
Type of menstrual disturbance:
The most common are amenorrhea or oligomenorrhea.
Patients may develop regular cycles later in life due to the decreasing ovarian follicles with
subsequent decrease in androgen production.
Cause of menstrual disturbance:
Chronic anovulation.
Atrophy of the endometrium due to exposure to androgens.
Differential diagnosis:
50% of postmenarchal girls have irregular periods for up to 2 years due to immaturity of the
HPO axis. In girls with PCOS, they often continue to have irregular cycles.
O Hyperandrogenism:
Hirsutism:
Definition: The presence of coarse, dark, terminal hairs distributed in a male pattern.
Differential diagnosis: Hirsutism should be distinguished from hypertrichosis, which is a
generalized increase in lanugo, that is, the soft, lightly pigmented hair.
C Acne: Acne that is persistent or of late onset should suggest PCOS.
C Alopecia: androgenic alopecia is a less common finding in PCOS.
O Acanthosis Nigricans:
Definition: thickened, gray-brown velvety plaques seen in areas of flexure such as the back of
the neck and the axillae.
Incidence: obese women with PCOS (50% incidence), PCOS and normal weight (5-10%).
Aetiology: Insulin resistance leads to hyperinsulinemia, which stimulates keratinocytes.
O Obesity: The waist:hip ratio reflects an android or central pattern of obesity.
O Infertility: PCOS is the most common cause of Anovulation and accounts for 80 to 90 % of cases.
O Pregnancy Loss: early miscarriage may occur due to insulin resistance.
O Complications in Pregnancy: higher risk of gestational diabetes, hypertension, preterm birth, and
perinatal mortality.
II. Atypical presentation
O Ovarian Hyperthecosis: (rare)
It is a more severe form of PCOS, characterized by:

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Nests of luteinized theca cells throughout the ovarian stroma.
Severe hyperandrogenism, and occasionally frank virilization.
A greater degree of insulin resistance and acanthosis nigricans.
O HAIRAN Syndrome:
It consists of HyperAndrogenism-Insulin Resistance-Acanthosis Nigricans, uncommon.

Investigations:
I. Hormonal profile

Test Significance
FSH & LH LH is increased in 50% of affected women .
FSH is normal or decreased.
LH:FSH ratio (Day 3) LH:FSH ratios > 2 in 60% of patients
Serum testosterone Increased in 70-80% of patients.
Serum androstenedione Increased
Serum DHEAS Increased in 50% of cases
TSH and Prolactin Exclusion of thyroi d disease and hyperprolactinemi a
(Prol actin is slightly increased in 25%)
17-Hydroxyprogesterone Exclusion of congenital adrenal hyperpl asia (CAH)

II. Assessment of insulin resistance
2-hour glucose tolerance test (2-hr GTT).
Fasting serum insulin level
Serum glucose:insulin ratios.

III. Lipid profile
Fasting lipid profile is essential in patients with PCO.

IV. Sonography

Sonographic criteria for polycystic ovaries from the 2003 Rotterdam conference
O The presence of 12 small cysts (2 to 9 mm in diameter) or
O An increased ovari an volume (>10 mL) or
Often there is an increased amount of stroma rel ati ve to the number of follicles.
The typical "black pearl necklace" appearance is no more a diagnostic criterion because it can
often be found in other conditions of androgen excess, such as CAH, Cushing syndrome.
A polycystic ovary should not be confused with a multicystic ovary which is normal sized, contains
six or more follicles without peripheral displacement, or increase in central stromal volume.

V. Laparoscopy
Direct visualization of the ovaries and possible ovarian drilling could be done.
VI. Endometrial biopsy
It is recommended in women older than age 35 with abnormal bleeding and in younger women with
anovulatory bleeding refractory to hormonal treatment for fear of endometrial hyperplasia.

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Other causes of oligo- or anovulation Other causes of hyperandrogenism
Hyperthyroidism
Hypothyroidism
Hyperprolactinemia
Hypogonadotropic hypogonadism
Late-onset CAH
Cushing syndrome
Androgen-secreting ovarian tumor
Androgen-secreting adrenal tumor

I. General treatment
Life style changes (through a well-balanced hypocaloric diet and exercise) are very beneficial. Even 5%
reduction of body weight can result in restoration of normal ovulatory cycles in some women.

II. Treatment according to patient complaint
First: Patient complaining of menstrual disturbance
O Combination Oral Contraceptive Pills:
Indication: A first-line treatment for menstrual irregularities.
Advantages:
It will induce regular menstrual cycles.
COCs reduce androgen levels (COCs suppress gonadotropin).
Estrogen component increases SHBG levels.
Progestin component antagonizes the endometrial proliferative effect of estrogen, thus
reducing risks of endometrial hyperplasia due to unopposed estrogen.
O Cyclic Progestins:
Indication: In patients who are not candidates for combination hormonal contraception.
Regimen: MPA (medroxyprogesterone acetate), 5 to 10 mg orally daily day for 12 days.

Second: Patients complaining of hirsutism
Treatments may require 6 to 12 months before clinical improvement is apparent.

O COCs As described earlier.
O GnRH Agonists

Administration of these agents is not a preferred long-term treatment method due
to associated bone loss, high cost, and menopausal side effects.
O Antimetabolite creams
(Eflornithine)
It is applied twice daily to areas of faci al hi rsutism. Clinical results from eflornithine
hydrochl ori de may requi re 4 to 8 weeks of use.
O Androgen-Receptor
Antagonists
These agents carry a risk for: pseudohermaphroditism in male fetuses in early
pregnancy. So, these drugs are used in conjunction with oral contracepti ve pills.
O 5 -Reductase Inhibitors Finasteri de 5-mg daily dose is modestly effecti ve in the treatment of hirsutism.
O Hair Removal Hirsutism is treated by mechanical means (depil ation and epilation techniques).

Third: Women complaining of acne
O Combination oral contraceptive pills.
O Antiandrogens such as spironolactone, which inhibit binding of androgen to its receptor.
O 5 -reductase inhibitors e.g. finasteride.

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Fourth: Patients complaining of infertility
O Induction of ovulation:
Clomiphene citrate alone, with HCG or gonadotrophins with HCG.
C Insulin-Sensitizing Agents: e.g. Metformin 250-500 mg 3 times daily. It improves peripheral insulin
sensitivity by reducing hepatic glucose production and increasing target tissue sensitivity to insulin.
O Surgical treatment:
Laparoscopic ovarian drilling during which 4-8 points (depending on ovarian size) are cauterized in
each ovary with 60-400 watts for 2-4 seconds.
The rate of ovulation thereafter is 90%, the rate of pregnancy is 70%.
O Assisted reproductive techniques: restored to if all other measures fail to achieve pregnancy.




Gonadal dysgenesis with abnormal Karyotype
(Turner syndrome)
An inherited disorder in which oocytes undergo accelerated atresia during early fetal ovary, and the
ovary is replaced by a fibrous streak due to abnormal karyotype (missed X chromosome).
about two thirds of gonadal dysgenesis.
45,XO karyotype: (50%) absent X chromosome (monosomy).
Chromosomal mosaicism: (50%)
The most common form is 45 XO/46 XX karyotype.
Chromosomal mosaicism may include the presence of a Y chromosome, such as 45 X/46,XY.
Thus, chromosomal analysis should be performed and a streak gonad should be removed if Y
chromosomal material is found, as 25% will develop a malignant germ cell tumor.
46 XX karyotype: with partial deletion of X chromosome (abnormal X chromosome).
I. Clinical presentation
I. Classic presentation (45 XO karyotype monosomy)

Symptoms:
Primary amenorrhea and delayed puberty.
Primary infertility.
Signs:
Short stature with webbing of the neck & shielding of the chest.
Cardiac (Coarctation) and renal anomalies.
Bilateral cubitus valgus (wide carrying angle).
Deformities of the ears, fingers and toes.

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The breasts remain underdeveloped with widely spaced nipples.
The genital organs are infantile.
II. Presentation in patients with mosaic turner syndrome
When compared with the classic 45 XO patients, individuals with mosaic turner are:
Taller although 80% are shorter than their peers
Fewer abnormalities, 66% have some somatic abnormalities.
Spontaneous menstruation occurs in 20% of these patients ending in POF.

III. Presentation in patients with abnormal X chromosome
Patients with deletions on long arm of X chromosome (Xq): patients will have sexual infantilism,
normal stature, no somatic abnormalities, and streak gonads. Some patients may be eunuchoid in
appearance and have delayed epiphyseal closure.
Patients with deletions on short arm of X chromosome (Xp): phenotypically similar to individuals
with Turner syndrome.

II. Investigations
Hormonal profile: estrogen is law, FSH is high (hypoestrogenic hypergonadotrophic).
Buccal smear: absent Barr body.
Chromosomal study: 45 XO or mosaic.
Ultrasound & laparoscopy: infantile organs and streak gonads.
Investigations for other anomalies: e.g. chest X-ray.
General measures: the patient should be assessed for hypertension, DM and thyroid disorders.
Genetic counseling for other family members should be considered.
Hormonal treatment:
Growth hormone therapy: To achieve adequate final adult height.
Estrogen therapy:
Rule: To promote sexual maturation, induce menstruation and avoid osteoporosis.
Starting therapy: It starts at 12-13 years old when growth hormone therapy is completed, to
avoid premature closure of bone epiphyses.
Regimen: Conjugate Equine Estrogen (CEE) 0.3 - 0.625 mg is given daily and is increased
over 1-2 years till twice the dose of postmenopausal women (1.25 mg).
Progestins:
Rule: it is given to avoid the unopposed estrogen.
Starting therapy: it starts after the patient experiences vaginal bleeding or after 6 months of
unopposed estrogen if no bleeding occurs.
Regimen: MPA is given 5-10 mg daily for 10-14 days each month.
Surgical treatment: If patient karyotype includes a Y chromosome, streak gonads should be
removed to avoid the risk of malignant transformation (25%).
Oocyte donation: for women who want to achieve pregnancy, this is prohibited in Islamic countries.




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Gonadal dysgenesis with normal Karyotype
(Pure gonadal dysgenesis)
one third of patients with gonadal dysgenesis.
It is likely due to single gene defects or destruction of gonadal tissue in utero, perhaps by
infection or toxins.
normal karyotype either 46,XX or 46,XY.
Patients with a 46,XY genotype are phenotypically female due to the lack of secretion of
testosterone and mllerian inhibiting substance by the dysgenetic testes (Swyer syndrome).
as Turner.



hidden menstruation due to the presence of genital tract outflow obstruction.

I. Inherited
Labial agglutination or fusion: due to female pseudohermaphroditism e.g. fetal congenital adrenal
hyperplasia (CAH) or luteoma of pregnancy.
Imperforate hymen: 1 in 2,000 women.
Transverse vaginal septum: 1 in 70,000 women.
Isolated atresia: of the vagina or cervix.
Non communicating horn: It accumulates menstrual blood.

II. Acquired
Cervical stenosis: This may result from conization, electrosurgery, or cryosurgery.
Cervical obstruction: by a mass.

Due to the presence of outflow obstruction, blood accumulates above the level of obstruction and
becomes thick and chocolate colored.
The sequence is hematocolpos, hematometra, hematosalpinx then pelvic hematocele which later
predisposes to endometriosis.
The main bulk of pelvi-abdominal mass is hematocolpos not hematometra.
Symptoms
Primary amenorrhea: is the main complaint, 2ry amenorrhea in acquired cases (rare).
Lower abdominal pain: cyclic in nature.
Abdominal swelling: by hematocolpos or full bladder.
Pressure symptoms: urinary frequency, dysuria, acute or chronic retention.

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Fever and malaise: due to absorption of blood.

Signs
General examination: well developed secondary sexual characters.
Abdominal examination: Pelvi-abdominal mass that is tense, cystic, of limited mobility, and a solid
mass may be felt above it (the uterus).
Pelvic examination:
Vaginal examination:
Bulging bluish closed hymen if imperforate hymen.
A dimple with absent vagina if vaginal aplasia.
Rectal examination: cystic swelling compressing the anterior wall.

Investigations
Ultrasound: for diagnosis of non-communicating horn, hematocolpos, urological anomalies.
Laparoscopy: in case of non-communicating horn and other congenital anomalies.
IVP: for exclusion of urological anomalies which are common with mllarian anomalies.

Differential diagnosis
Pelvi-abdominal masses in cryptomenorrhea could be hematocolpos, full bladder due to chronic
retention or pelvic kidney.

Identification of the cause: by examination and investigations.
Treatment according to the cause:
Imperforate hymen:
Preoperative: Virginity certificate.
Operation: General anesthesia Cruciate incision under complete aseptic conditions
excision of the edges Blood is left to drain gradually to avoid splanchenic shock.
Postoperative: no drain is left.
Transverse vaginal septum:
If the septum i s thick: excision and skin grafting.
If the septum i s thin: excision and end to end anastomosis or Z-plasty.
Cervical atresia: trial for dilation.
Antibiotics: given pre-, intra- and postoperative, blood is a good medium for bacterial growth.


It is a syndrome of anterior pituitary necrosis due to severe postpartum hemorrhage. Pituitary necrosis
secondary to other causes is named (Simmonds disease)
Severe postpartum hemorrhage causes spasm of pituitary vascular supply which is already critical
because most of blood is shifted to the posterior pituitary at the time of labor for synthesis of oxytocin.


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Defect Clinical picture Investigation
Deficient prolactin Failure of lactation and breast atrophy (1
st
symptoms) ---
Deficient gonadotrophins Secondary amenorrhea, genital atrophy, loss of lipido Decreased FSH & LH
Deficient ACTH Hyopglycemia (& coma), hypotensi on, increased
susceptibility to infection, anaemia and theombocytobenia
Decreased ACTH
Deficient TSH Mental dullness, recent cold int olerance, hair falling Decreased TSH
Deficient MSH Pale waxy skin ---
Treatment is only replacement, this includes:
Thyroxine: 130 g/day.
Cortisone: 15 mg/day.
Gonadotrophins: are given for ovulation induction in patients who want to get pregnant,
Clomiphene citrate is useless in those patients.



Frolish syndrome
A hypothalamic congenital disorder characterized by primary amenorrhea, obesity, infantile genital
organs and sleepiness.
Laurence-Moon-Biedl syndrome
It consists of the same features of Frolish syndrome but with also retinitis pigmentosa and blindness,
polydactyly and mental retardation.
Anorexia nervosa
It is a psychological disorder in which the patient has distorted body image and believes in being
obese. This results in abnormal food restriction and weight reduction, the patient is amenorrhic,
emaciated, and weak. This disorder requires psychotherapy.
Bulimia
It is a syndrome of overeating followed by self-induced vomiting or the use of laxative to avoid weight
again. Psychological therapy is needed.
Kallmann syndrome
Isolated GnRH deficiency along with olfactory affection (anosomia or hyposomia).
Lorian syndrome
For unknown cause, only growth hormone and gonadotrophins are affected and so the patient has
pituitary dwarfism along with amenorrhea and hypogonadism.
Empty sella syndrome
It is a congenital (or acquired following surgery, radiotherapy and infarction) syndrome of deficient dura
matter with herniation of the subarachnoid space into the sella turcica compression the pituitary.
Pseudocyesis
It is a syndrome resulting from either fear or strong desire to get pregnant, occurring usually above the
age of 40. It is hypothalamic mechanism with further suppression of FSH & LH.

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