Gynaecology Pg No 161 -170

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Questions and Answers

What hormone is responsible for the development of male secondary sexual characteristics during puberty?

Testosterone (correct)

Luteinizing hormone

Progesterone

Estrogen

Clitoromegaly at puberty is indicative of 5α reductase deficiency.

False

What is absent in individuals with Partial AIS?

Breast development

Individuals with 5α reductase deficiency have _____ genitalia.

fully formed male Signup and view all the answers

Match the feature with the correct condition (Partial AIS or 5α reductase deficiency):

Time of clitoromegaly since birth = Partial AIS Absence of breast development = Both Fully formed male genitalia = 5α reductase deficiency Time of clitoromegaly at puberty = 5α reductase deficiency Signup and view all the answers

What is the karyotype in a case of primary amenorrhea described?

46 XX Signup and view all the answers

An inflated swollen hymen may indicate an imperforate hymen.

True Signup and view all the answers

What is the management for an imperforate hymen?

Cruciate incision on hymen Signup and view all the answers

An enlarged uterus with blood collection in the uterus is known as ______.

hematometra Signup and view all the answers

Match the diagnostic findings with their corresponding conditions:

Hematocolpos = Blood collection in the vagina Vaginal agenesis = Vaginal opening absent Normal hymen = Hymen not bulging Endometriosis = Retrograde menstruation Signup and view all the answers

What condition is linked to normal levels of LH and FSH?

Mullerian agenesis Signup and view all the answers

Elevated levels of LH and FSH indicate Kallmann syndrome.

False Signup and view all the answers

Name one condition that is a subcategory of gonadal dysgenesis.

Turner's syndrome Signup and view all the answers

Kallmann syndrome is characterized by the absence of development of the __________.

gonads Signup and view all the answers

Match the following conditions with their descriptions:

Mullerian agenesis = Absence of fallopian tubes and/or vagina Gonadal dysgenesis = Problems preventing normal ovarian function Kallmann syndrome = Genetic disorder affecting gonad development Cryptomenorrhea = Absence of menstruation due to obstruction Signup and view all the answers

What is the primary management approach for an individual diagnosed with Disorders of Sexual Development (46 XY)?

Continue female identity and gonadectomy Signup and view all the answers

Individuals with 5α reductase deficiency typically present with male external genitalia at birth.

False Signup and view all the answers

What condition is often associated with delayed puberty in individuals with Disorders of Sexual Development?

Amenorrhea Signup and view all the answers

In boys with 5α reductase deficiency, testosterone is converted to _____, leading to female external genital organs.

DHT Signup and view all the answers

Match the following features with their corresponding conditions:

46 XY Disorders of Sexual Development = Absence of male characteristics like pubic hair 5α Reductase Deficiency = Female external genital organs at birth Delayed puberty = Failure of breast development Gonadectomy = Management strategy for 46 XY condition Signup and view all the answers

Which of the following is the most common cause of cryptomenorrhea?

Imperforate hymen Signup and view all the answers

A urine pregnancy test is not required if there is adequate breast development.

False Signup and view all the answers

What are two key steps in the work-up process for primary amenorrhea?

Physical examination and ultrasound Signup and view all the answers

Conditions associated with a present uterus but menstrual abnormalities include __________ and Kallmann syndrome.

Gonadal dysgenesis Signup and view all the answers

Match the following conditions with their respective categories:

Mullerian agenesis = Missing or underdeveloped uterus Androgen Insensitivity Syndrome = Missing or underdeveloped uterus Kallmann syndrome = Present uterus with menstrual abnormalities Gonadal dysgenesis = Present uterus with menstrual abnormalities Signup and view all the answers

What is the most common karyotype associated with Turner's Syndrome?

45XO Signup and view all the answers

Patients with Turner's Syndrome typically have normal estrogen levels.

False Signup and view all the answers

What is a common cardiovascular condition associated with Turner's Syndrome?

Bicuspid aortic valve Signup and view all the answers

In Turner's Syndrome, the presence of _____ ovaries leads to a decrease in estrogen production.

streak Signup and view all the answers

Match the following features to their respective syndromes:

Webbing of neck = Turner's Syndrome Decreased GNRH = Kallman Syndrome Short stature = Turner's Syndrome Hypoplastic uterus = Turner's Syndrome Signup and view all the answers

What role do Lactobacilli play in vaginal health?

They help maintain an acidic pH for defense. Signup and view all the answers

Leucorrhoea is characterized by a thick discharge during the first half of the menstrual cycle.

False Signup and view all the answers

What is the primary purpose of a Pap smear?

Screening for cancer Signup and view all the answers

The predominant vaginal flora in healthy women consists mainly of __________.

Lactobacilli Signup and view all the answers

Match the following characteristics with the correct type of discharge:

Leucorrhoea = Colourless, Odourless Bacterial Vaginosis = Colourless, Pungent odour Menstrual Discharge = Thick and dark Normal Vaginal Flora = Predominantly Lactobacilli Signup and view all the answers

What is the karyotype of Swyer Syndrome?

46XY Signup and view all the answers

Individuals with Turner’s Syndrome typically have dysgenetic testes.

False Signup and view all the answers

Name the gene affected in Kallman Syndrome.

KAL1 Signup and view all the answers

In Kallman Syndrome, individuals may experience __________ due to hypothalamic failure.

anosmia Signup and view all the answers

What feature differentiates Swyer Syndrome from Turner's Syndrome in terms of gonads?

Dysgenetic testes Signup and view all the answers

Individuals with Swyer Syndrome typically have normal breast development.

False Signup and view all the answers

List one feature that is common to both Swyer Syndrome and Turner’s Syndrome.

Primary amenorrhea Signup and view all the answers

Match the genetic conditions with their corresponding features:

Swyer Syndrome = 46XY karyotype Turner's Syndrome = 45X0 karyotype Kallman Syndrome = Anosmia All conditions = Primary amenorrhea Signup and view all the answers

What is the main management option for the condition of Müllerian agenesis?

Vaginoplasty Signup and view all the answers

Individuals with Androgen Insensitivity Syndrome (AIS) can produce biological children.

False Signup and view all the answers

What karyotype is associated with Müllerian agenesis?

46XX Signup and view all the answers

The _______ technique and the Veitch technique are used for vaginoplasty in Müllerian agenesis management.

McIndoe Signup and view all the answers

Match the following conditions with their karyotype:

Müllerian Agenesis = 46XX Androgen Insensitivity Syndrome = 46XY Signup and view all the answers

What is the commonest cause of primary amenorrhea in India?

Mullerian agenesis Signup and view all the answers

A girl who has not menstruated by the age of 15 and has breast budding is considered to have primary amenorrhea.

False Signup and view all the answers

What is the hormonal profile in Kallmann syndrome?

Decreased LH and FSH Signup and view all the answers

The absence of menstruation by age 13 without breast budding indicates __________.

primary amenorrhea Signup and view all the answers

Match the following conditions to their hormonal profiles:

Kallmann syndrome = ↓ LH, ↓ FSH Turner's syndrome = ↑ LH, ↑ FSH, ↓ E Androgen Insensitivity Syndrome (AIS) = LH and FSH normal Mullerian agenesis = LH, FSH, E: Normal Signup and view all the answers

Which of the following Tanner stages represents breast budding?

Stage 2 Signup and view all the answers

Gonadal dysgenesis can present as either Turner’s syndrome or Swyer syndrome.

True Signup and view all the answers

Thelarche refers to the development of __________.

breast tissue Signup and view all the answers

What condition is characterized by normal levels of LH and FSH but abnormal development of external genitalia?

Androgen Insensitivity Syndrome (AIS) Signup and view all the answers

What is the common cause of gonadal dysgenesis?

45XO (Turner's syndrome) Signup and view all the answers

Study Notes

Primary Amenorrhea

Absence of menstruation by 13 years if breast budding is absent.
Absence of menstruation by 15 years if breast budding is present.
Breast budding should be present for at least 3 years prior to menstruation.
Most common causes worldwide are Gonadal Dysgenesis followed by Mullerian Agenesis.
Most common causes in India are Mullerian Agenesis followed by Gonadal Dysgenesis.

Hypothalamic Causes

Kallmann Syndrome: Characterized by low LH and FSH levels.

Pituitary Causes

Tumors such as Craniopharyngioma can lead to primary amenorrhea.

Ovarian Causes

Gonadal Dysgenesis:
- Turner's Syndrome - occurs in individuals with a 45XO karyotype.
- Swyer Syndrome - occurs in individuals with a 46XY karyotype.
- Pure Gonadal Dysgenesis - occurs in individuals with a 46XX karyotype.
Gonadal Dysgenesis results in elevated levels of LH and FSH, as well as decreased estrogen and testosterone levels.

Uterine Causes

Mullerian Agenesis:
- Individuals with Mullerian Agenesis have normal LH, FSH, and Estrogen levels.
Androgen Insensitivity Syndrome (AIS):
- Individuals with AIS have normal LH and FSH levels, but will have male levels of Testosterone.
- AIS individuals are insensitive to Testosterone, therefore their bodies do not experience the typical masculine features that occur with puberty.

Outflow Tract Obstruction

This includes conditions such as imperforate hymen, transverse vaginal septum, or vaginal atresia/agenesis
The uterus may be present but the menstrual flow is blocked, causing menstrual blood to accumulate in the uterus or vagina.
This can cause a supra pubic bulge, cyclic pain, and endometriosis.
Hematocolpos - when blood accumulates in the vagina
Hematometra - when blood accumulates in the uterus

Work Up

Physical Examination: Assess breast development and pubic hair.
Urine Pregnancy Test (UPT): If adequate breast development has occurred.
Ultrasound (USG): Assess the uterus.
Hormone Levels: Measure FSH, LH, and Estrogen.
Karyotyping: The preferred diagnostic method (Best Ix).

Mullerian Agenesis

Also known as Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome.
Characterized by the absence of both Mullerian ducts, resulting in the absence of fallopian tubes, uterus, cervix, and upper vagina.
Occurs in individuals with a 46XX karyotype.
Internal genitalia is absent, but external genitalia is typically normal.
Breast development and pubic/axillary hair growth are normal.
LH and FSH levels are normal.
May be associated with other anomalies such as renal agenesis, horseshoe kidney, or skeletal anomalies.
May become pregnant through in vitro fertilization (IVF) with a surrogate mother.
Vaginoplasty is recommended prior to or after marriage.

Androgen Insensitivity Syndrome (AIS)

Occurs in individuals with a 46XY karyotype.
Individuals possess testes, but are insensitive to Testosterone
External genitalia is typically female.
Breast development is normal.
Pubic and axillary hair is typically scanty.
Individuals will have normal LH and FSH levels, but they have male level testosterone.
The disorder is irreversible.

Swyer Syndrome

Occurs in individuals with a 46XY karyotype.
Individuals have gonadal dysgenesis, with either streak ovaries or dysgenetic testes.
Individuals have a normal female external appearance with a normal height.
External genitalia is typically female.
Breast development is absent.
Pubic and axillary hair may be scant.

Turner Syndrome

Occurs in individuals with a 45XO karyotype.
Individuals have streak ovaries, which are non-functional ovaries.
Individuals have short stature.
Individuals will experience symptoms of low estrogen levels.
Other physical characteristics include:
- Webbing of the neck .
- Low posterior hairline.
- Shield-shaped chest.
- Widely spaced nipples.
- Sensorineural hearing loss (SNHL).
- Autoimmune diseases such as type 1 diabetes, Hashimoto thyroiditis, and celiac disease.
- Cubitus valgus (increased carrying angle of the elbow).
- Cardiac disease such as bicuspid aortic valve, and coarctation of the aorta.

Kallmann Syndrome

Occurs in individuals with a 46XX karyotype.
The condition is caused by a mutation in the KAL1 gene and affects the development of the hypothalamus.
Individuals have a normal female appearance, but they develop hypoplastic uterus due to low estrogen levels.
Individuals have impaired sense of smell (anosmia).
Individuals have low levels of LH, FSH, and Estrogen.
Individuals have a normal stature.

Vaginitis and Cervicitis

Vaginal flora is polymicrobial.
Lactobacilli or Doderlein bacilli, gram +ve bacilli, are the most common bacteria found in a healthy vagina.
Lactic acid is created by Lactobacilli and contributes to the acidic pH of the vagina for its defense mechanism.
Estrogen plays an important role in maintaining an acidic vaginal pH.
This acidic environment can help suppress the growth of many pathogenic microorganisms.
Candida can survive in the acidic vaginal environment.

Pap Smear

An important screening test for cervical cancer.

Leucorrhoea

A common vaginal discharge that occurs in healthy individuals.
Discharge is generally colorless, odorless, and varies in consistency throughout the menstrual cycle.
Discharge becomes thinner during the first half of the cycle, due to estrogen, and thicker during the second half, due to progesterone.
No itching or dysuria (pain with urination) is associated with normal vaginal discharge.

Bacterial Vaginosis Discharge

Bacterial vaginosis discharge is often gray or white and has a fishy odor.
No itching or dysuria (pain with urination) is associated with bacterial vaginosis.

Differential Diagnosis for Vaginal Discharge

Physiological vaginal Discharge:
- Colorless, odorless.
- No pruritis or dysuria.
Bacterial Vaginosis:
- Colorless, fishy odor.
- No pruritis or dysuria.
Vulvovaginal Candidiasis
- White curdlike discharge.
- Itching and/or dysuria.

Gonadal Dysgenesis

Individuals with Gonadal Dysgenesis will have low estrogen which often results in the following:
- Absence of breast development.
- Hypoplastic (infantile) uterus.
- Scanty pubic and axillary hair.

Turner Syndrome

Karyotype: 45XO
Gonads: Streak Ovaries.
Stature (height): Short.
Additional features:
- Webbing of the neck.
- Low posterior hairline.
- Shield-shaped chest.
- Wide spaced nipples.
- Sensorineural hearing loss (SNHL).
- Autoimmune diseases.
- Cubitus valgus.
- Cardiac disease.

Kallmann Syndrome

Characterized by decreased levels of Gonadotropin Releasing Hormone (GNRH), leading to low levels of LH, FSH, and Estrogen.
Individuals have delayed puberty, primary amenorrhea, infertility and hypoplastic uterus.
Treatment involves pulsatile administration of GnRH.

Management of Gonadal Dysgenesis

Turner Syndrome:
- Individuals may require estrogen replacement therapy for sexual development and bone health.
- Management of cardiac and other associated health conditions.
Swyer Syndrome:
- Gonadectomy may be recommended to reduce the risk of malignancy.
- Estrogen replacement therapy may be considered for sexual development and bone health.

Management of Primary Amenorrhea

Imperforate hymen: Cruciate incision.
Mullerian Agenesis: Vaginoplasty (typically performed before or after marriage).
AIS: Gonadectomy, vaginoplasty, and estrogen replacement therapy.
Note:* This information is for informational purposes only and is not intended to substitute medical advice from a healthcare professional. Please consult with a doctor or other qualified healthcare provider for questions about diagnosis and treatment.

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Description

This quiz covers essential aspects of primary amenorrhea, including its definitions, causes, and classifications. Learn about the various hormonal and genetic factors contributing to the condition and explore the most common causes observed worldwide and in India.