Case Report Contoh

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CASE REPORT

Outpatient, A 9 years and 7 months old boy, IS, Minahasastribe, admitted to hospital on

December 31st , 2012 with impairment on consciousness, since 6 hours before, with cold

hand and foot. Patient had naussea since 1 day before admitted with frequency 3 times a day.

The patient had a frequent urination at the night, with frequency 3-4 times a day,

History of illness (heteroanamnesis, given by parents)_

Patients present with a chief complaint referred by Urology Division, Departement of

Surgery and planned for uretroplasty, release chordae and one-stage orchidopexy.

Originally from a month ago the patient seems to experience changes in behavior.

Patient looks slightly more pensive and more rather be alone in his bedroom. After

his parents asked about his behavior changes, patient told that her genitals changed

and now has a male gender.

After knowing about this changes, patient was taken to consult to a pediatrician.

And after several examination and consultation, patient get a referral from a local hospital

fmanced by the local government to go to Manado.In Manado, patient come to see

the surgeon and further scheduled for surgery. Patients and their families willing to

do surgery to change sex to male.

Patient was born and raised as females. Previously the patient had never

complained about the current state of his condition. And so far, parents are not realize

of

the situation experienced by the patient. Patient attended school as ussual and making

friends with female friend on her own age. Patients also have the sound and look like

a female on her age and wearing veil. About others development during childhood,

parents assumed that patient has normal development history if compare with other

child with some age and gender in the community.

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History of prenatal care and birth

No record of morbidities during pregnancy. During the pregnancy, patient mother had

ninth time antenatal care at the local hospital and got tetanus toxoid immunization

twice. During this period of pregnancy, the mother was health. No medication or

others treatment (i.e. herb) was taken during pregnancy. Delivered in full term

via normal delivery at local hospital Ternate, with birth weight 3,200 gram and

birth length was forgotten, assited by midwife, spontaneous cry and no cord coil.

The gender was female according to the midwife.

Past Medical History

Never been on serious illness before . No other medical history related to

the present illness.

History of Family Illness

No history of ambiguous genitalia or intersexuality of other family member.

Growth and Development History

Smiling : 3 months

Rowling over : 4 months

Crawling : 6 months

Sitting : 8 months

Standing : 12 months

Walking : 12 months

Saying mama/papa : 13 months


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History of

feeding

Breastfeeding

Formula milk

Milk porridge

Soft rice

porridge Soft

: birth to 12 month old

: 6 month to 12 month old

: 6 to 8 month old

: 8 to 16 month old

: 16 to 18 month old

: 18 month old until now

History of immunization

Patient had received BCG once, polio vaccination four times, DPT vaccination

three times, hepatitis B vaccination three times, measles vaccination once and

never had booster vaccination.

Social. economic and environmental conditions

Patient is fourth child in the family, had three older sister (26 years old, 23 years

old and 21 years old). Father was 45 years old, Temate's tribe, moslem, a senior

high school graduation and work as entrepreneur, with income about 1.500.000

per month. Mother was 43 years old, Gorontalo's tribe, moslem, a senior high

school graduation and work as housewife.

Patient lived with her parents in a permanent house with four bedrooms,

occupied by 6 person (5 adults and 1 children). The bathroom and lavatory were

inside the house. Drinking water source was taken from mineral water provide by

the government water company. They had an electrical source form the

government electrical company. The garbage was collected and removed to public

waste disposal.

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Pedigree

Patient, 13 7/12 years old

Physical examination

General condition : Good general condition

Consciousness : Alert (GCS : E4V5M6)

Weight : 40 kg ((P10-P25), CDC 2000 (normal))

Height : 154 cm ((P10-P25),CDC 2000 ;z-score -1< x


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conjungtiva was not anemic, sclera was not icteric,

clear lenses, corneal reflex was normal, pupil

isochors with diameter 3 mm, light reflex was

normal, no strabismus and no nistagmus

Nose : no discharges and abnormalities

Ears : no discharges and abnormalities

Mouth : no central cyanosis, no cleft palate, no drooling, no

carries

Throat : tonsils T 1/T1 in normal limit, pharynx in normallimit

Neck : no lymph node enlargement, trachea in the middle

line, adam's apple prominent

Chest : normal shape, no retraction, no breast enlargement

Heart : normal rate, regular rhythm, no thrill, no murmurs,

heart margin was normal, heart rate 88 times/minute

Lungs : symmetrical movements, symmetrical vocal

fremitus,

sonor on both sides, bronchovesicular breath sound,

without rales or wheezing.

Abdomen : convex and soft, liver and spleen were not

palpable,

no ascites, no adrenal masses were palpable,

normal bowel sound.

Genital : pubic hair is seen chiefly at the base of phallus,

phallus

length cannot be evaluated, with prepuce over glans

ventral frenulum (Prader 4), scrotum (+), rugae (+),

chordae (+), penoscrotal type of hypospadia (urethral

opening at the junction of the penis and scrotum), no

vaginal pouch, testis were palpable on the inguinal

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canal.

Anus : normal, anogenital ratio < 5.

Extremities : warm, capillary refill time less than 2", no atrophy,no

hypotonic, no simian crease, turgor and muscle

tone was normal

Skin : brown, no cyanotic, no effloresensi, BCG scar (+)

Status pubertal : Tanner stageA2G2P2

Anthropometric measurement

Height for age : PurP25, CDC 2000 ;z-score -1< x


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Chest circumference : 67 cm (P3-P,5) (normal)

Waist circumference : 63 cm (normal)

Arm span : 150 cm (normal)

Middle finger length : 8 cm (P75-P97) (normal)

Palm length : 10 cm (P50-P75) (normal)

Total hind length : 18 cm (P75-P97) (normal)

Foot length : 25 cm (1375-P97) (normal)

Upper segment : 66 cm

Lower segment : 88 cm

Upper/lower ratio : 66/88 0,75 (proportionate)

Laboratory findings

Hormone (October 5th

, 2011)

Testosterone : 215,7 ng/dL (T) (8-13 ng/dL)

LH (Luteinizing Hormone) : 15,99 mIU/mL (t) (0,4-4,6 mlU/mL)

FSH (Follicle Stimulating Hormone) : 47,80 mIU/mL (T) (0,71-6,90 mIU/ML)

USG (October 5th

, 2011)

Pelvic USG result : Testis bilateral with small size in the middle of the

inguinal canal, prostate appearance, and no uterus was identified.

Working diagnosis

Disorders of Sex Development (DSD, with penoscrotal type hypospadias and

chordae and undescensus testis bilateral)

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Planning

Chromosome analysis

Bone age

Testosterone/DHT ratio

November 361

, 2011

Complaint (-)

General condition : Good general condition

Consciousness : Alert

Vital sign

Blood pressure : 100/60 mmHg

Pulse rate : 80 times/minute (regularly)

Respiration rate : 24 times/minute

Body temperature : 36,5C (axilla)

Head and neck

Head : oval shape, black color hair, not easy to pulled out

Eye : no edema on palpebra, no ptosis, no lagoftalmus,


clear lenses, corneal reflex was normal, pupil isochors

with diameter 3 mm, light reflex was normal, no

strabismus and no nistagmus




carries

Throat : tonsils T 1/T1 in normal limit, pharynx in normal limit

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Neck

Chest

Heart

Lungs

Abdomen

Genital

Extremities

Skin

: no lymph node enlargement, trachea in the middle line, adam's apple prominent

: normal shape, no retraction, no breast enlargement : normal rate, regular rhythm,

no thrill, no murmurs,heart margin was normal, heart rate 80 times/minute

: symmetrical movements, symmetrical vocal fremitus, sonor on both sides,

bronchovesicular breath sound, without rales or wheezing.

: convex and soft, liver and spleen were not palpable, no ascites, no adrenal masses

were palpable, normal bowel sound.

: pubic hair is seen chiefly at the base of phallus, phallus length cannot be

evaluated, with prepuce over glans ventral frenulum (Prader 4), scrotum (+), rugae (+),

chordae (+), penoscrotal type of hypospadia (urethral opening at the junction of the penis and

scrotum), no vaginal pouch, testis were palpable on the inguinal canal.

: warm, capillary refill time less than 2", no atrophy, no hypotonic, no simian crease, turgor and muscle

tone was normal

: brown, no cyanotic, no effloresensi, BCG scar (+)

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Laboratory findings

Chomosome analysis (October 20th

, 2011)

Sampel heparin derived from peripheral blood. With G-Banding techniques have

been studied chromosomes of 20 cells. Obtained the number of chromosomes in

each cell being studied was 46, XY

Result : 46, XY (no major structure abnormalities)

Bone age (October 17th

, 2011)

Result : Bone modeling normal, no blastic lesion, no soft tissue swelling and no

fracture. Bone age + 14 years old girl (normal bone age)

Working Diagnosis

46, XY DSD (Disorders of Sex Development)

Differential diagnosis

5-a reductase deficiency

Partial Androgen Insensitivity Syndrome

Management

Hormone therapy : Testosterone injection, 50 mg , intramuscular, every

3 to 4weeks

Psychososial therapy Gender consultation to the patient and parents

Planning


DNA mutation analysis

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Surgery for correction and cosmetics

November 10ffi

, 2011

Complaint

General condition

Consciousness

Vital sign

Blood pressure Pulse

rate Respiration rate

Body temperature

Head and neck

(-)

: Well looking : Alert

: 100/60 mmHg

: 84 times/minute (regularly) : 32 times/minute :

36,5C (axilla)

Chest

H e a

d

E y e

Nose

Ears

Mouth

Throat

Neck

: oval shape, black color hair, not easy to pulled out

: no edema on palpebra, no ptosis, no

lagoftahnus, conjungtiva was not anemic, sclera

was not icteric, clear lenses, corneal reflex was

normal, pupil isochors with diameter 3 mm, light

reflex was normal, no strabismus and no

nistagmus

: no discharges and abnormalities

: no discharges and abnormalities

: no central cyanosis, no cleft palate, no

drooling, no carries

: tonsils T1/T1 in normal limit, pharynx in normal

limit : no lymph node enlargement, trachea in the

middle line, adam's apple prominent

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heart margin was normal, heart rate 84 times/minuteLungs : symmetrical movements, symmetrical vocal

fremitus,



Abdomen : convex and soft, liver and spleen were not

palpable,


normal bowel sound.


phallus



chordae (+), penoscrotal type of hypospadia

(urethral opening at the junction of the penis and

scrotum), no vaginal pouch, testis were palpable on

the inguinal canal.

Extremities : warm, capillary refill time less than 2", no atrophy,

no

hypotonic, no simian crease, turgor and muscle tone

was normal


Working Diagnosis



5-a reductase deficiency


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Management

Hormone therapy : Testosterone injection, 50 mg , intramuscular (I')

Planning



" Surgery for correction and cosmetics

November 24*, 2011

Complaint (-)

General condition : Well looking


Vital sign

Bloodpressure : 100/60 mmHg




Head and neck




clear lenses, corneal reflex was normal, pupil isochors

with diameter 3 mm, light reflex was normal, no



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carries

Throat : tonsils T 1/T1 in normal limit, pharynx in normallimit






Lungs : symmetrical movements, symmetrical vocal

fremitus,



Abdomen : convex and soli, liver and spleen were not

palpable,


normalbowel sound.


phallus



chordae (+), penoscrotal type of hypospadia (urethral

opening at the junction of the penis and scrotum), no

vaginal pouch, testis were palpable on the inguinal

canal.

Extremities : warm, capillary refill time less than 2", no atrophy,

no

hypotonic, no simian crease, turgor and muscle tone

was normal


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17

Working Diagnosis


Differential diagnosis 5-ct reductase

deficiency


Management

Hormone therapy : Testosterone injection, 50 mg , intramuscular (2")

Planning



Surgery for correction and cosmetics

Desember 226, 2011

Complaint : (-)



Vital sign






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Head and neck



conjungtiva was not anemic, sclera was not icteric, clear

lenses, corneal reflex was normal, pupil isochors with

diameter 3 mm, light reflex was normal, no





carries







Lungs : symmetrical movements, symmetrical vocal fremitus,



Abdomen : convex and soft, liver and spleen were not palpable,

no ascites, no adrenal masses were palpable, normal

bowel sound.

Genital : pubic hair is seen chiefly at the base of phallus, phallus



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Extremities

chordae (+), penoscrotal type of hypospadia

(urethral opening at the junction of the penis and

scrotum), no vaginal pouch, testis were palpable

on the inguinal canal.

: warm, capillary refill time less than 2", no

atrophy, no hypotonic, no simian crease, turgor

and muscle tone was normal

- Skin : brown, no cyanotic, no effloresensi, BCG scar (+)

Working Diagnosis



5-a reductase

deficiency


Management

Hormone therapy : Testosterone injection, 50 mg , intramuscular (3rd)

Planning

Surgery for correction and cosmetics by Urology Subdivision

(Desember 24th

, 2011)



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Desember 24th, 2011

Surgery result

Uretroplasty, release chordae and one-stage bilateral orchidopexy.

January 12th

, 2011 (after surgery)

Complaint (-)



Vital sign




Body temperature : 36,7C (walla)

Head and neck




clear lenses, corneal reflex was normal, pupil

isochors with diameter 3 mm, light reflex was

normal, no strabismus and no nistagmus




carries



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Chest

Heart

Lungs

Abdomen

Genital

Extremities

Skin

21


: normal shape, no retraction, no breast enlargement : normal

rate, regular rhythm, no thrill, no murmurs, heart margin was

normal, heart rate 80 times/minute

: symmetrical movements, symmetrical vocal fremitus, sonor on both sides,

bronchovesicular breath sound, without rales or wheezing.

: convex and soft, liver and spleen were not palpable, no ascites, no

adrenal masses were palpable, normal bowel sound.

: pubic hair is seen chiefly at the base of phallus, phallus length cannot

be evaluated, post surgical incision was seen without bleeding, no

discharge, scrotum (+), rugae (+), chordae release, testis were palpable on scrotum.

: warm, capillary refill time less than 2", no atrophy, no hypotonic, no simian crease,

turgor and muscle tone was normal

: brown, no cyanotic, no effloresensi, BCG scar (+)

Working Diagnosis



5-a reductase

deficiency



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Management

Hormone therapy : Testosterone injection, 50 mg , intramuscular (0)

Planning

Psychosocial support 4 for thig patient confidence to receive the condition

Administrative for changing gender

Genetic counseling



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