60. Pediatric gynecology. Common conditions -diagnosis and treatment

Question 1

paediatric gynaecology conditions are separated into what ?

Answer 1

neonates , toddler , and infants <5 years old
premenarchal 5-11 years
perimenarchal to adolescence 12-18 years

Question 2

what are the common conditions needing clinical attention in below 5 years old ?

Answer 2

clitorial enlargement
labial adhesion
muco or hydroclops
ovarian enlargement

Question 3

what are the common conditions in premenarchal ?

Answer 3

vulvovaginitis in childhood
precocious puberty
neoplasm
abnormal vaginal bleeding

Question 4

what are the postmenarchal to adolescence conditions ?

Answer 4

menstrual disorders - DUB - menorrhagia
differs from common cause is fibroids and polyps.

delayed puberty

hirsutism

primary amnerorrhea

Question 5

what are the causes for clitorial enlargement ?

Answer 5

CLASSIC congenital adrenal hyperplasia - sever 21 b hydroxylase deficiency

fraser syndrome -AR disorder
fused eyelids (cryptophthalmos), fusion of the skin between the fingers and toes ( syndactyly ), and abnormalities of the genitalia and urinary tract

androgen insensitivity

Question 6

what is the treatment for congenital adrenal hyperplasia ?

Answer 6

glucorticoids - hydrocortisone

if 21b hydroxylase
life long fludrocortsone
mineral corticoids to replace aldosterone

Fluid resuscitation with intravenous normal saline
Intravenous

dextrose in patients with significant hypoglycemia

salt if patient deficient

Question 7

what are other signs to diagnose Frasser syndrome ?

Answer 7

malformations in nose , ears and pharynx

Question 8

describe what is labial adhesion ?

Answer 8

labia minora has adhered together

starts from posteriorly to anteriorly leaving a small opening at the foremost top through which urine can be leaked

Question 9

what causes labial adhesion ?

Answer 9

A vulva with low estrogen exposure
has delicate epithelial lining and is therefore vulnerable to infection, inflammation and trauma causing the edges of the labia minora to fuse together

Question 10

complication of labial adhesion ?

Answer 10

urinary tract infections

Question 11

treatment of labia fusion ?

Answer 11

unnecessary in asymptomatic - will separate naturally over

required when symptomatic and causing urinary tract infections -topical estrogen cream onto the areas of adhesion with gentle traction on labia
ollowed with vitamin A, vitamin D, and/or petroleum jelly to prevent re-adhesion

labia may be separated manually with local anesthesia or surgically under general anesthesia if topical treatment is unsuccessful. This is followed with estrogen treatment to prevent recurrence.

Question 12

what is hydrocolpos and what causes hydrocolpos ?

Answer 12

distension of the vagina due to accumulation of fluid

imperforate hymen or a transverse vaginal septum just above the hymen.

excess estrogen stimulation acquired in utero from the mother-causes increased secretion of mucus or watery discharge from the cervical and uterine glands. or in rare cases vesicovaginal fistula it will contain wine

can be associated with vaginal atresia

rarely big enough to produce an abdominal swelling.

Question 13

diagnosis of hydrocolops ?

Answer 13

Abdominal examination reveals a lower abdominal lump.

Distended bladder (sometimes there’s retention urine) makes the lump apparently bigger

Vulval inspection reveals a tense bulge of the obstructing membrane which looks shiny.

Question 14

treatment for hydrocolops ?

Answer 14

Cruciate incision is enough to drain the pent- up mucus. Antibiotic is given.

Question 15

what causes ovarian enlargement in neonates ?

Answer 15

withdrawal of maternal estrogen, there is transient elevation of gonadotropins in neonates. This influence of elevated gonadotropins can stimulate to produce ovarian follicular cysts

Question 16

what is the treatment for ovarian follicular cysts

Answer 16

usually affect one ovary, do not cause symptoms,
usually regress spontaneously.

As such, the cysts need no surgery unless complicated through torsion
ysts smaller than 5 centimeters in diameter may be monitored with ultrasonography; larger cysts are more likely to cause complications are either drained by percutaneous aspiration or surgically removed.

Question 17

why are premenarchal girls susceptible to vulvovaginitis ?

Answer 17

hypoestrogenic state of the vagina contributes to the susceptibility of infection-lack of stratification of vaginal epithelium

absence of Doderlein’s bacillus /Staphylococcus epidermidis, diptheroids, lactobacilli and anaerobic bacteria such as bacteroide- vaginal flora

vaginal pH remains high, around 7

 Inadequate perineal hygiene

 lack of protective pubic hair and fatty pads of labia majora.

Question 18

causes of vulvovaginitis ?

Answer 18

group a beta-hemolytic Streptococcus pyogenus (7–20% of cases),
Haemophilus influenzae, Streptococcus pneumoniae, Staphylococcus aureus,

RARE
STI organisms if sexually abused (Neisseria gonorrhoeae, Chlamydia trachomatis, Trichomonas vaginalis, herpes simplex virus, and human papillomavirus).

foriegn body - toilet paper

systemic illness - measles/chicken pox

Chemical/irritant (or Allergic) Vulvovaginitis - local irritants such as soaps, bubble bath, nylon underwear, cosmetics,

skin conditions - lichen sclerosis (autoimmune)

Lichen simplex chronicus - LSC can be a primary condition, or secondary as a reaction to another vulvar disease, such as lichen sclerosus or lichen planus. Primary LSC is more common and may be due to exposure to an irritating substance, such as a laundry product, which results in chronic irritation and scratching.

Lichen planus

Question 19

signs and symptoms of vulvovaginitis ?

diagnosis of vulvovaginitis ?

Answer 19

purulent vaginal or blood stained discharge, 
irritation,
pruritis,
maybe dysuria 
abnormal odor /erythema/ edema 

the vulva
lichen sclerosis - pruruitis
vaginal bleeding.
Lesions are small, pink, flat papules that coalesce into plaques that can become atrophic vulva and perianal area
chronic constipation is associated with this
does not affect inside vagina ! or anus!

Lichen simplex chronicus (LSC) -
persistence of an isolated area of pruritis that is fairly well localized on the labial skin
pruritic lichenified plaques that can also cause vaginal bleeding, mainly from excoriation. .

Lichen planus of VULVA AND VAGINA -reticular or lacy white patterns of erosions of the vulva and the oral mucosa.

soreness, burning around the vulva

scar tissue which distores the vagina

Affected patients may complain of hair loss and have a history of papular and puritic lesions on other skin surfaces such as the ankles, dorsal surfaces of the hands, and flexor surfaces of the wrists and forearms.

=======
vaginal swab culturing

wet mount

Question 20

treatment for vulvovaginitis ?

Answer 20

neutral pH of the vagina allowsrectal bacteria to overgrow in the vagina and create these symptoms even when there is an attempt at adequate hygiene. These cases are best treated with symptomatic relief with one to two soaks in warm tub water daily and postbath use of a barrier cream such as zinc oxide or another diaper rash ointment
if it doesn’t work - amoxicillin
estrogen cream

if local irritants :
vulvar hygiene kept
daily sitz baths and application of hydrocortisone cream

lichen sclerosis - topical steroids
and treatmnet of constipation - otherwise it gets worst

lichen simplex chronicus - topical steroids and antihistamines to cease the itch-scratch cycle

lichen planus - tapering dose of steroids followed by maintenance barrier creams (i.e. clobetasol propionate ointment twice daily for 2 weeks, followed by fluticasone ointment twice daily for 2 weeks, then alclometasone ointment twice daily for 2 weeks, and lastly hydrocortisone 1% ointment twice daily for 2 weeks).

Foreign body is to be removed followed by use of estrogen therapy

Question 21

what is precocious puberty?

Answer 21

Precocious puberty occurs when children younger than 8 experience changes indicative of puberty, including development of breast buds (thelarche), pubic hair, menstruation,and a growth spurt.

Question 22

cause of precocious puberty

Answer 22

central precocious puberty - 
gonadotropin dependant and premature activation of 
the hypothalamic-pituitary-ovarian axis
eg - hypothalamic hamartomas 
brain tumours
infections  - most common tuberculous meningitis 
radiation 
hydrocephalus 

Peripheral precocious puberty are GnRH independent

from gonads such as ovarian cyst ,
ovarian tumors (sex chord gonadal tumors that produce estrogen - granulosa cell tumor /thecoma)
adrenals - tumors , 

NON CLASSIC congenital adrenal hyperplasia - mild 21b hydroxylase deficiency

germ cell tumor - producing ectopic hCG
exogenous sex hormone exposure
primary hypothyroidism

Question 23

diagnosis of precocious puberty and treatment

Answer 23

start of menstruaton usually before 10 years in girls

physical examination - hieght , weight - growth spurt
tanner staging - breast formation , pubic hair

blood tests - for LH and FSH , estradiol , testosterone , TSH and free t4

bone age and skeletal maturation

treatment continuous use of GnRH agonists decreases gonadotropins

Question 24

the neoplasms in premenarchal ?

Answer 24

encountered during this period are usually ovarian tumors

malignant :
Germ cell tumors

Granulosa cell tumor- oestrogen producing causing precocious puberty

Mixed germ cell tumor, dysgerminoma is intermediary in position

benign tumors
cystic teratoma - common
epithelial tumors

Question 25

what are the causes for abnormal vaginal bleeding

Answer 25

Precocious puberty/Isolated menarche. 
� Foreign body in the vagina.
� Trauma/Infection.
� Sexual abuse.
� Neoplastic conditions

Question 26

what is hirsutism ?

Answer 26

is excessive body hair

Question 27

what is the cause hirtusim

Answer 27

increased level of androgens-
PCOS

adrenocortical carcinoma

congenital adrenal hyperplasia

cushing syndrome

ovarian tumors such as sex chord gonadal stromal tumor - sometimes produce testosterone , mostly estrogen.

insulin, at high enough concentration, stimulates the ovarian theca cells to produce androgen

or an oversensitivity of hair follicles to androgens.

Question 28

diagnosis of hirtuism?

Answer 28

Ferriman-Gallwey Score which gives a score based on the amount and location of hair growth on a woman

> 8- mild hirtuisim
15- moderate to severe

Question 29

what is the treatment of hirtuism?

Answer 29

Medications consist mostly of antiandrogens-bicalutamide

spironolactone

Question 30

what is primary amenorrhea?

Answer 30

Primary amenorrhoea is defined as an absence of secondary sexual characteristics by age 14 with no menarche or normal secondary sexual characteristics but no menarche by 16 years of age

Question 31

what causes primary amenorrhea?

Answer 31

unbroken hymen

non perforated cervix

asherman syndrome

Vaginal agenesis, or müllerian dysgenesis (also known as Mayer-Rokitansky-Kuster-Hauser [MRKH] syndrome) is caused by agenesis or partial agenesis of the müllerian duct system. It is characterized by congenital aplasia of the uterus and upper two thirds of the vagina in women showing normal development of the secondary sexual characteristics and a normal 46,XX karyotype.. The first sign is primary amenorrhea.
Müllerian agenesis- congenital malformation characterized by a failure of the Müllerian duct to develop, resulting in a missing uterus and variable degrees of vaginal hypoplasia

androgen insensitivity syndrome

CAH

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hypergonadotropic hypogonadism - most common

turner syndrome - gonadal dysgenesis 
increased fsh and LH 
short stature,
congenital cardiac defects 
webbed neck, 
coarctation of the aorta (10%), renal abnormalities (50%), hypertension, 
pigmented nevi, short fourth metocarpal
Hashimoto thyroiditis, 
obesity, and osteoporosis. Depletion of ovarian follicles causes amenorrhea.

(in males it klinefelter syndrome)

secondary gondola insufficiency - due to damage to dleydig or ovarian tissue by pelvic inflammatorydisease , radiation
infection such as mumps and tuberculosis

========
hypogonadotropic hypogonadism

Kallmann syndrome - X-linked recessive disorder

prader willi syndrome

gaucher disease

hyperprolactinemia - prolactinoma

hypopituitarism - tumors , infection , radiation

hypothyrodism
low T4 –> inc TRH (hypothalamus)/ TSH (anterior pitutory)–> dec dopamine (inhibitor of prolactin) –> inc prolactin –> dec GnRH –> dec LH + FSH

frolic syndrome - dsytrophy adiposegenitalia
rare childhood metabolic disorder characterized by obesity, growth retardation, and retarded development of the genital organs. It is usually associated with tumours of the hypothalamus, causing increased appetite and depressed secretion of gonadotropin

cushing syndrome - pituitary tumor producing acth

anorexia nervosa

Question 32

what is the treatment for primary amenorrhea ?

Answer 32

turner syndrome - Uterine maturity -with years of estrogen use

prader willi estrogen and progesterone repayment treatmnet

androgen insensitivity syndrome - testes needs to be removed as it can become cancerous
estrogen pills - people who wish to have female traits
gender assignment

kallman syndrome -
For men: testosterone
For women: estrogen and progesterone combination therapy
Gonadotropins or pulsatile GnRH therapy is used to increase fertility.

hypothyroidism
thyroxine

Question 33

diagnosis of primary amenorrhea ?

Answer 33

imperative to rule out pregnancy

primary amenorrhea with otherwise normal pubertal development, pelvic examination may help detect imperforate hymen, a transverse vaginal septum, or cervical or uterine aplasia = us

Thin and pale vaginal mucosa with absent rugae is evidence of estrogen deficiency.
The presence of cervical mucus with spinnbarkeit is good evidence of estrogen effect

Measuring the clitoris is an effective method for determining the degree of androgen effect.

Thyroid-stimulating hormone (TSH), b-HCG, prolactin, follicle-stimulating hormone (FSH), and luteinizing hormone (LH) measurements are always the first line of testing. If hirsutism is predominant upon examination, include androgen testing: measure testosterone, dehydroepiandrosterone sulfate (DHEAS), androstenedione, and 17-OH progesterone to determine the organ of cause (e.g. ovary vs adrenal gland).

Genetic testing (karyotype) to determine the person’s genetic makeup

Question 34

congenital adrenal hyperplasia

Answer 34

All forms of CAH are characterized by low levels of cortisol, high levels of ACTH, and adrenal hyperplasia.

CAH is caused by autosomal recessive defects in enzymes that are responsible for the production of cortisol.

The most common form of CAH is caused by a deficiency of 21β-hydroxylase

Question 35

clinic presentation of classical and non classic CAH (21b hydroxylase deficiency) ?

Answer 35

classic

salt wasting - severe
and dehydration

Female pseudohermaphroditism: clitoromegaly and/or male external genitalia along with a uterus and ovaries

precocious puberty

======
non classic

normal genitaia

Precocious puberty

Virilization - voice deepening, hirsutism, male-pattern hair loss, increased muscle mass

irregular menstrual cycles,

infertility

Question 36

diagnosis of CAH with 21b hydroxylase

Answer 36

All newbornsscreened for CAH by measuring changes in 17-hydroxyprogesterone levels from a heel prick blood sample.

metabolic acidosis

11 deoxycortisone low

cortisol low

sodium low

postaium high

Question 37

etiology of cushing syndrome ?

Answer 37

most common - pituitary adenoma - ACTH over production - bilateral adrenal hyperplasia = increase androgen production

Question 38

clinical features of cushing syndrome ?

Answer 38

Thin, easily bruisable skin with ecchymoses

purple abdominal striae

hyperpigmentation

Delayed wound healing

Neuropsychological: depression

Endocrine and metabolic
Insulin resistance →
central obesity,
moon facies, and a buffalo hump

♀: Decreased libido,
virilization - Hirsutism
Acne

irregular menstrual cycles (e.g., amenorrhea)
Growth delay
Secondary hypertension

Question 39

diagnosis of cushing syndrome ?

Answer 39

↑ 24-hour urine cortisol

↑ Early morning serum cortisol levels (> 50 nmol/L) following a low-dose dexamethasone suppression tes

and serum acth

CT and MRI of pituitary

Question 40

treatmnet of cushing ?

Answer 40

Pituitary adenoma: transsphenoidal resection of the pituitary adenoma

suppress cortisol synthesis (e.g., metyrapone, mitotane, ketoconazole)

Question 41

diagnosis of PCOS?

Answer 41

atleast 2 of the three
oligoovulation and/or anovulation
excess androgen in blood
polycystic ovaries (by gynecologic ultrasound)over 10 small follicles with diameter between 5 to 10 mm along the ovarian periphery
====
 increase Testosterone 

↑ LH (LH:FSH ratio > 2:1)

Estrogen is normal or slightly elevated

insulin resistance

Question 42

clinical features of PCOS ?

Answer 42

Menstrual irregularities (primary or secondary amenorrhea, oligomenorrhea)
Difficulties conceiving or infertility
Obesity and possibly other signs of metabolic syndrome
Hirsutism
Androgenic alopecia
Acne vulgaris and oily skin
Acanthosis nigricans: hyperpigmented, velvety plaques (axilla, neck)

Question 43

path-physio of PCOS?

Answer 43

Reduced insulin sensitivity (peripheral insulin resistance) is present in PCOS, as in metabolic syndrome → hyperinsulinemia

Hyperinsulinemia results in:

=Obesity

=Epidermal hyperplasia and hyperpigmentation (acanthosis nigricans)

= Increased androgen production in ovarian theca cells → imbalance between androgen precursors and the resulting estrogen produced in granulosa cells

=Increased LH secretion disrupts the LH/FSH balance → impaired follicle maturation and anovulation/oligoovulation

=Increased androgen precursor release → virilization and a reactive increase in estrogen production in adipose tissue

=Inhibits the production of SHBG (sex hormone-binding globulin) in the liver → ↑ free androgens and estrogens

Question 44

treatmnet of PCOS?

Answer 44

The therapeutic approach in PCOS is broadly based on whether or not the patient is seeking treatment for infertility.

If treatment for infertility is not sought:

First-line: weight loss via lifestyle changes

Second-line (as an adjunct): combined oral contraceptive therapy - ncrease sex hormone binding globulin production, which increases binding of free testosterone

If the patient is not overweight: combined oral contraceptive therapy

metformin for insulin resistance

=====

If seeking treatment for infertility

First-line
Ovulation induction with clomiphene citrate or letrozole
(Clomiphene inhibits hypothalamic estrogen receptors, thereby blocking the normal negative feedback effect of estrogen → increased pulsatile secretion of GnRH → increased FSH and LH, which stimulates ovulation0

If the patient is overweight: advise weight loss
Second-line: ovulation induction with exogenous gonadotropins or laparoscopic ovarian drilling

Question 45

signs and symptoms of kalmman syndrome

Answer 45

ansomia

• infertility
• cryptoorchidism - failure of descend of testicles
• primary amenorrhea

-absent of pubertal changes breast development and growth spurt!!!!

Question 46

diagnosis of kallman syndrome?

Answer 46

Clinical presentation
Hormone levels: low levels of GnRH, FSH, LH, estrogen/testosterone (otherwise normal pituitary function)

genetic testing - caused by tweet different gene mutations

Question 47

clinical feature of androgen insensitivity syndrome ?

Answer 47

a very small penis or an enlarged clitoris

and female breast development

Blind-ended vaginal pouch, uterine and fallopian tube agenesis

Cryptorchid testes: intralabial, inguinal, or abdominal localization of undescended testicles

Scant or no pubic hair

Question 48

diagnosis of androgen insensitivity syndrome

Answer 48

Before puberty: ↑ testosterone

After puberty: ↑ LH, ↑ estrogen, and normal/↑ testosterone levels (no virilization)
this is due to increased aromatisation of testosterone to estrogen

Genetic testing - x linked recessive = only in males