23 Maret 2022

Kompetensi DSA
1. Pertumbuhan dan gangguan pertumbuhan
 Perawakan pendek
 Perawakan tinggi
2. Obesitas
 Obesitas hormonal
 Perbedaan obesitas hormonal dan obesitas nutrisional
3. Gangguan keseimbangan cairan dan elektrolit
 Diabetes insipidus
 SIADH
4. Gangguan kelenjar tiroid
 Hipotiroid
 Hipertiroid
 Struma
 Tumor
5. Diabetes melitus
 Diabetes melitus tipe 1
 Diabetes melitus tipe 2
 Diabetik ketoasidosis
 Bayi dari ibu DM
 Neonatal diabetes
6. Hipoglikemia
 Hipoglikemia pada bayi
 Hipoglikemia pada anak
7. Hiperplasia adrenal kongenital
8. Sindroma Cushing dan penyakit Cushing
9. Testis dan gangguannya
10. Ambigus genitalia
 Disgenesis gonad
 Mikropenis
 Pseudohermaprodit
11. Kelenjar paratiroid dan gangguannya
 Hipoparatiroid
 Short Strature
1. (New) A mother complains that her son's height is the shortest among his peers. On
examination the growth rate decreases, and the child looks fat but proportional. What do you
think is the cause of the child being short?
a. Achondroplasia  (disproporsional)
b. Hormonal disorder  pendek gemuk
c. Familial Short Stature
d. CDGP
e. Nutritional disorder

2. (New) A 15-months-old girl present with stunted. Her medical history revealed she suffered
from ventricular septal defect. Mother gave history of difficult of breastfeeding and weaning
period. The girl was born full term and her perinatal was unremarkable. She is up to date on all
vaccines, have meeting all developmental milestones except speech domain. She only talks
dada, tata, papa. Father height was 165 cm, mother height was 150 cm. Which the following
is the potential genetic of the child?
a. 155,5 – 172,5 cm
b. 149 – 166 cm
c. 151 – 164 cm
d. 142,5 – 159,5 cm
e. 157,5 – 170,5 cm
3. (New) A 15 years old boy teenage come to the endocrine clinic complaining of short stature
and pubertal signs yet. There is no problem of learning at school (bukan hipotiroid). There was
decrease growth velocity. The boy’s height is 120 cm, weight 40 kg, pubertal status G3P2
(pubertas setelah G2, vol testis>2mL). His mother had menarche at 15 years old (delay puberty
orangtua). What is the most reasonable test for this patient? Dx short strature + puber normal

a. GH stimulation test
b. Bone age
c. Reffer to endocrinologyst pediatric
d. Chromosome analysis
e. IGF-1
4. (New) A girl aged 14 years was brought to your clinic as the child was very short and often
experience constipation, Height was 110 cm, weight 40 kg. Routine blood tests showed no
abnormalities. Birth history was normal, term, according to gestational age. Currently the child
is in year 2 junior high school. What is your investigation plan for this case?
a. Lower leg photo
b. Head photo
c. Anterior posterior chest X-ray
d. Plain photo of abdomen
e. Left hand bone age photo
 Proksimal tulang kecil  anak
Distal  dewasa

5. A child has short stature and is noted to have a large head with a prominent forehead. Select the
most appropriate diagnosis.
a. Familiar short stature
b. Anorexia nervosa
c. Constitutional delay
d. Achondroplasia  dwarfism, limited range of motion at the elbows, large head size
(macrocephaly), small fingers, and normal intelligence
e. Growth hormone deficiency : proporsional
6. A boy 8 years old came to endocrine clinic is complaining of of shortness compared to his
peers. He seldom get sick and satisfactory achievement at school His body height is 100 cm,
weight 35 kg, his father’s height is 175 cm, mother 158 cm, and the bone age is appropriate for
male age 5 years old. What is the most reasonable test for this patient?
a. Random GH test
b. IGF-1 and insulin tolerance test
c. Random thyroid hormone test
d. Thyroid and insulin tolerance test
e. GH and insulin tolerance test
Working Dx : GH Deficiency
DD : Hipotiroid (prestasi jelek), Turner (pada perempuan)
Lab : IGF-1 dan GH stimulation test è clue diagnostic GH deficiency
Metode GH stimulation : 1. Insulin tolerance test menggunakan klonidin
7. A pediatric endocrinologist has diagnosed familial short stature in 14-year-old boy. Which of
the following are consistent with this diagnosis?
a. bone age is low compared to chronologic age : harusnya bone age normal
b. prognosis for normal adult height is good : prognosis jelek karena adult height pendek
c. Family history for childhood short stature
d. Undernourished for the first year of life : tidak ada hubungannya. Undernourished
karena malnutrisi
e. Infant was small for size at birth : SGA  risiko pendek oleh karena SGAnya
bukan e.c familial short stature.

8. A 12-year-old girl is at the 3th percentile for height. She is an otherwise healthy child. The
bone age is greater than two standard deviations below the chronologic age, but in
concordance with her height age. Of the following, the MOST likely cause of this patient's
short stature is:
A. Constitutional growth delay
B. Familial short stature (bone age= usia kronologis)
C. Growth hormone deficiency (kecepatan tumbuh tidak normal, proporsional, ratio
bb/tb meningkat)
D. Hypothyroidism (kecepatan tumbuh tidak normal, proporsional, ratio bb/tb meningkat
Emotional deprivation
9. An 11-year-old girl is reffered with short stature, her height is below 3rd percentile. Her
height based on an approximation calculated using her parents’ heights, is still appropriate with
genetic potential. Radiographs of the left hand and wrist reveal a bone age consistent with her
chronologic age. Which of the following is the most likely cause of this patient’s short stature?
A. Familial short stature
B. Hypothyroidism
C. Growth hormone deficiency
D. Celiac disease
E. Constitutional growth delay

10. The grandmother of an 8-year-old presents with him for this preschool checkup and is concerned
because he has not grown in height for the last 2 years.
Which of the following best approximates the prepubertal annual increase in height?
a. 1-2 cm
b. 3-4 cm
c. 5-7 cm
d. 8-10 cm
e. 12-14 cm

 Normal > 4cm/tahun

11. You are evaluating a 10-month-old infant for recurrent fracture following relatively minor
trauma. You note deep blue sclera and bowing of the lower extremities. X-ray examination
reveals generalized osteopenia.
Which of the following is the most likely diagnosis?
a. Achondroplasia
b. Spondyloepiphysial Dysplasia
c. OI
d. Osteopetrosis
e. Rickets
Working Dx : OI
Classical OI was described with the triad of fragile bones, blue sclerae,
and early deafness, although most cases do not have all of these features.
The Sillence classification divides OI into four types based on clinical and radiographic
criteria. Types V and VI were later proposed based on histologic distinctions.
Subsequent types VII-XVIII were based on identification of the molecular defect,
followed by clinical description.
DD
12. Tomi is an 20 month-old boy who presents to paediatric outpatients with bow legs and poor
weight gain. His mother states that he has poor intake of solid food, no gastrointestinal
symptoms. His mother feels that he is not as active as other boys of his age. There is no history
of fractures. Examination revealed that Tomi has prominent forehead and a marked bow-leg
deformity. From the laboratory examination revealed Calcium 2.21 mmol/L (2.20–2.70
mmol/L), Alkaline phosphatase (ALP) 1372 U/L (145–420 U/L).
a. Osteoporosis
b. Nutritional Rickets vitamin D,Ca
c. Osteogenesis imperfecta patah
d. Osteomyelitis infeksi
e. Osteopetrosis patah

DI/SIADH
13. A l year-old child presents with failure to thrive, frequent large voids of dilute urine,
excessive thirst, and three episodes of dehydration not associated with vomiting or
diarrhea. Over the years, other family members reportedly have had similar histories. The likely
diagnosis is
A. Water intoxication
B. Diabetes mellitus
C. Diabetes insipidus
D. Child abuse
E. Nephrotic syndrome

Working Dx : DI sentral ( dilute, GDA normal, gangguan sentral seperti tumor)

DD : DI nefro (dilute, nefrogenik) dd Diabetes melitus (dicari GDA, Sesak,
dehidrasi, penurunan kesadaran) , 1 tahun neonatal diabetes
14. A boy 4 years old, complained of frequent urination and a lot of drinking, thin, blood
sodium 150 mEq/dl, random blood glucose 120 mg/dL, After being given nasal vasopressin
hormone, urination decreased and the condition improves. What is the most probable diagnosis
of the case?
a. DI central type
b. DI peripheral type
c. CSW
d. DM
e. SIADH

15. The most common cause of acquired hypopituitarism is

a. Craniopharyngioma
b. Eosinophilic granuloma (histiocytosis)
c. Tuberculosis
d. Toxoplasmosis
 e. Meningitis

Gangguan Tiroid

16. For each of the following jaundiced babies, select the most likely cause: A 13 day old infant
who was noted to have an umbilical hernia and has very dry skin presents with jaundice. She
is a floppy baby. Her bilirubin is checked and is found to be elevated and mainly
unconjugated. The community midwife has been unable to gain access to the home for the last
week.
A.Physiological jaundice
B. Biliary atresia
C.Hypothyroidism
D. Rhesus incompatibility
E. Congenital spherocytosis
17. A 13 month-old female presents with motor delay development. You note that her TSH is
very high and FT4 is very low
What is the most likely diagnosis?
a. Secondary Hypothyroidism
b. Tertiary Hipothyroidism
c. Hypothyroid compensated
d. Transient Hipothyroidsm
e. Primary hypothyroidism

18. A 13 month-old female presents with motoric delay development. You note that her TSH is
high and FT4 is still normal . What is the most likely diagnosis?
a. Primary Hipothyroidism
b. Secondary Hipothyroidism
c. Tersiary Hipothyroidism
d. Hypotiroid compensated
e. Transient Hipothyroidism
19. You have a 2 weeks-old term infant in your clinic for a well child visit. The baby grew
accordingly without significant clinical findings. The mother brought laboratory results, which
showed TSH is 90 mU/ml (normal: < 20 mU/ml) and the T4 is 0.3 U/ml (>7 mU/ml)→T4
atau FT4? Which of the following is the most appropriate action at this point? Hipotiroid
kongenital primer usia <6 bulan. Hipotiroid primer
a. Start sodium L-thyroxine 10-15 g/kg/day
b. Repeat TSH and order for free T4
c. Order for thyroid gland Ultrasound
d. Order for 123I-sodium iodine uptake scan
e. Start methimazole 0.1 - 0.4 mg/kg/day
20. A 14 years old girl come to the endocrine clinic, complaining enlargement of the thyroid
gland, history and physical examination did not reveal any signs of hypo- or
hyperthyroidism, ultrasound of the thyroid gland showed enlargement of the thyroid gland
does not any lump sign. TSHS slightly increased, FT4 and T3 in normal limits, anti-thyroid
peroxidase +, anti thyroglobulin +, iodine normal update. Diagnosis of this child is?
a. Grave’s disease  hipertiroid
b. Thyroiditis Hashimoto (subklinikal hashimoto) hipo, hiper, eu tiroid
c. Congenital hypothyroidism  sejak lahir-6 bualn
d. Endemic goiter (iodine deficiency?) daerah kantong
e. Thyroid carcinoma nodul cancer

Manifestasi klinis thyroiditis Hashimoto

a. The disorder is 4-6 times more common in females than in males.
b. It can occur during the first 3 yr of life but becomes more common after 6 yr of
age and reaches its peak incidence during adolescence.
c. The most common clinical manifestations are goiter and growth deceleration.
d. The goiter can appear insidiously and may be variable in size.
e. In most patients, the thyroid is diffusely enlarged, firm, and nontender.
f. In approximately 30% of patients, the gland is asymmetric.
g. Most affected children are clinically euthyroid and asymptomatic.
h. Some children have clinical signs and symptoms of hypothyroidism, but others
who appear clinically euthyroid have laboratory evidence of overt
hypothyroidism.
i. Some children have manifestations suggestive of thyrotoxicosis, such as
tremulousness, irritability, increased sweating, and hyperactivity, and laboratory
evaluation may show that they are in the Hashitoxic phase of disease,
characterized by thyrotoxicosis due to autoimmune thyroid destruction
j. Young children with chronic lymphocytic thyroiditis have serum TPO-Abs, but
Tg-Abs are positive in <50%. TPO-Abs and Tg-Abs are found equally in
adolescents with chronic lymphocytic thyroiditis.

21. M, boy, consulted due to lab result. FT4 7.28 µg/dL(0.9-2) ; TSH 0.002(0.8-2) µg/dL ; T3 was
3.49 µg/dL , what is the working diagnosis?
A. Central hypothyroidism
B. Peripheral hypothyroidism
C. Hyperthyroidism
D. Hashimoto tiroiditis subclnical hypothyroid phase
E. Hashimoto tiroiditis euthyroid phase
22. What are the conditions that may be observed in infants born to mother with hyperthyroid
Grave’s Disease?
A. Hypothyroidism  ibu minum obat PTU>3x100mg
B. Hyperthyroidism antibodi masuk ke janin
C. eutyroid
D. A,B correct
E. A,B,C correct

KAD/DMT1
23. (new) An 8-year-old boy, complained of heartburn since the last 5 hours. He showed clouding
of consciousness and restless. The child's looked thin, weight 26 kg, temperature 38.5oC, blood
pressure 110/80 mmHg, pulse rate 120 x/minute, weakly palpable, deep breathing
42x/minute. Parents revealed the child often urinate (4-5 times) in one night, drink a lot and
are getting thinner even though they eat more than usual. What do you choose for immediate
management in the ER?
a. Rehydration with 0.9% NaCl solution or RL
b. Give insulin drip 0.02 U/kgBW/day
c. Give insulin drip 0.1 U/kgBW/hour 0,05-0,1 U/kgBW/hour
d. Bolus with 10% dextrose intravenously
e. Give mannitol 1 g/kg body weight for 30-60 minutes
24. (new) A 9-years-old boy was brought to your ED with abdominal pain and vomiting. One
month earlier, the patient had frequent urination, was thirsty and hungry, and had lost
weight. On physical examination, you found patient was delirium, Kussmaul breathing,
strong pulse 100x/minute, and BP 90/60 mmHg. Eyes look sunken and skin turgor were
lacking. Random blood glucose was high. Which of the laboratory test will you order
immediately to assess patient condition?
a. Blood gas analysis
b. Urine culture
c. Blood culture
d. Fasting blood glucose
e. urine ketones and reduction
25. (new) A registered patient with type I dabetes presents for a folow up vist. You note that his
serum glicose is elevated and glycosylated hemoglobin (Hemoglobin Alic) level is 15.7%
(Normal<7.5) How long do you suspect the poor metabolic control has been occared in this
patent?
a. 5 months
b. 6 months
c. 3 months
d. 1 week
e. 1 month
26. child with diabetic ketoacidosis has the following serum values: glucose 500 mg/dL, Na + 126
meq/L, K+ 4 meq/L, Cl- 80 meq/L, BUN 16 mg/dL, and HCO3- 6 meq/L
When of the following most approximates this patient’s serum osmolality?
a. 260 mOsm/L
b. 270 mOsm/L
c. 285 mOsm/L
d. 295 mOsm/L
e. 310 mOsm/L

Hipoglikemia

27. A 3 days boy baby, was weakness, weight 4000 grams, his blood sugar was always below than
60 mg/dl despite being on a drip with dextrose 10% and had persistent hypoglycemia despite
already given dexamethasone and dextrose infusion already increase. The priority treatment
immediately, that must be done overcome hypoglycemia is ?  s.PHHI kadar insulin saat
hipoglikemia
A. Increasing the dextrose infusion
B. Increasing dose of cortikosteroid dose
C. Provide diazoxide medicine
D. Provide acid-base correction
E. Provide correction of electrolyte
 Puberty Precoc

28. (new) A 5-year-old girl was brought as she has bilateral breast development that was first
noticed 6 months ago. She takes no medications, and no source of exogenous estrogen is
present. Family history is unremarkable. Physical examination reveals a girl who is at the 50th
percentile for height and weight, normal blood pressure, soft abdomen without palpable masse,
with no pubic hair. She shown average bone age and prepubertal level of sex hormones.
What is your conclusion for the girl condition?
a. Premature thelarche  sembuh sendiri, kadar hormonal sesuai kadar prepuber
b. Central precocious puberty  growth spurt (+) lebih tinggi dari teman sebaya, kadar
hormonal sesuai dengan kadar puber
c. Congenital adrenal hyperplasia  hiperpigmentasi
d. Premature adrenarche
e. Adrenal tumor
29. A 4-years-old boy come with the chief complain of pubic hair growth and enlargement of
genitalia. The patient also the tallest among their peers. A bone age radiograph of his left hand
and wrist revealed advanced (karena pubertas precoc) appropriate with 9 years old boy. What
test should be performed next to establish the diagnosis?
A. Genital ultrasound
B. LH, FSH, testosteron
C. Head MRI  causa
D. 17-OHP
E. hCG test
CAH hiperpigmentasi, genital masih belum puber, testosterone yang tinggi dari adrenal

Delayed Puberty
30. (new) You received a referral from primary health care for suspicion of delayed puberty a 16
years-old girt You decide to evaluate sexual maturity scale when you noticed breast tissue
papable outside areola with no areolar development. Pubic with scarce terminal hair. Patient
does not experienced menarche yet. What is the sexual maturity rating of this patient? AM2P2
a. Tanner stage 3
b. Tanner stage 5
c. Tanner stage 2
d. Tanner stage 1
e. Tanner stage 4
31. (new) A girl 15 years-old presented with SLE and having short course of high dose
methylprednisolone therapy followed by Cyclophosphamide. The gat was presented at first
time with height less than minus 2 SD for her age. Further evaluation revealed she has low set
of hair line and a web neck. She does not experienced menarche yet. What is the possible
explanation for the syndrome aside from the SLE?
a. Steroid side effect
b. Complication of SLE
c. cyclophosphamide side effect
d. Part of SLE
e. Turner Syndrome
32. A 15 years old teenage come to the endocrine clinic complaining of short stature and no
pubertal signs yet. There is no problem of learning at school. The girl’s height is 120 cm,
weight 40 kg, pubertal status A1M1P1, short neck. What is the most reasonable test for this
patient? Turner syndrome
A. GH stimulation test
B. Random GH test
C. Estradiol, FSH, LH stimulation test
D. Chromosome analysis
E. IGF-1

 Working Dx : Turner syndrome

 DD : Hipotiroid, GH deficiency

PCOS
33. A 15 years old girl complained of menstrual disturbance (oligo and ammenorhea). She has
hyperpigmentation on the back and neck, hirsutism on the legs, acne, fasting blood glucose
123 mg/dL (N : <126mg/dl), and 2 hours after meal is blood sugar 180 mg/dL, blood pressure is
140/100 mmHg. What is the diagnosis of the patient?
A. PCOS (Polikistik ovari syndrome)
B. DM type 2
C. DM type 1
D. Deficiency of 21 hydroxylase : harusnya hipoglikemia
E. Other types of DM
Working Dx : PCOS (polycystic ovari syndrome)
DD : DMT2 (hiperpigmentasi)

CAH
34. (new) A 16 years-old girl who was admitted to massive pericardial effusion was identified as
having beard, as alas massive trunk, axillary, and pubic hair. The patent also experienced
irregular menstrual cycles, but genital is normal (jika CAH minimal klitoromegali). Some
of aunties also experience the same hairy condition. What do you think as the most possible
diagnosis?
a. Classical Congenital adrenal hyperplasia
b. Addison disease hiperpigmentasi
c. Non classical congenital adrenal hyperplasia
d. Disorder of sex differentiation
e. Ambiguous genitala
35. A 10 months old baby boy previously normal, suddenly becomes distressed in his crib. The
external appearance of genitalia was normal, except hyperpigmentation. Blood glucose showed
a level of 30mg% hipoglikemi, what is the most probable diagnosis?
A. Hyperinsulinism  isolated hipoglikemi
B. 21-Hydroxylase deficiency  CAH  Boy normal genital, klo girl ambigue
(klitoromegali), salt wasting syndrome, krisis adrenal (hiperkalemia,
hyponatremia (bisa tdk hyponatremia), asidosis metabolik, hipoglikemi))
C. Familial glucocorticoid deficiency  dr neonatus uda hipoglikemi berulang
D. Cushing syndrome  hiperkortisolism
E. Growth hormone deficiency  bisa mempengaruhi kadar glukosa
36. The girl baby was born with a length of clitoris 1.5 cm, her blood sugar levels was 40 mg / dl,
the sodium 115 mgeq / dl, and levels of 17 OHP was 150 (meningkat)
The diagnosis of this infant is:
A. HAK simple type (salt/non salt wasting)
B. HAK non salt wasting
C. HAK Salt wasting
D. Mixgonadal dysgenesis
E. 46 XY DSD

37. A 4-week-old male infant was admitted because of vomiting, weight loss, and poor feeding.
The infant weighed 3 kg at birth. On examination, the child was mildly dehydrated.
Hyperpigmentation was noted on external genitalia. Weight was 2.5 kg. Other physical
examinations were unremarkable. Serum electrolytes revealed Na+ 108 meq/L, K+ 7,2 meq/L,
BUN 31 mg/dL, Glucose 40 mg/dL.

Which of the following should be included in the treatment of this infant? Sex steroid
replacement
a. High protein diet
b. ADH replacement
c. High sodium fluid replacement
d. Glucocorticoid replacement (mineralocorticoid replacement untuk defisiensi aldosteron)
38. A,female, 5 months old, was admitted to emergency department with chief complain of
decrease of conciousness since 3 hours before admission. There was weakness,
vomiting 8x/day since 3 days before admission. Fever, cough, and poor intake was noted
since 1 day before admission. In genitals however there was an enlargement of the
clitoris with the length of 10 mm, Prader 3, normal anus and there was
hyperpigmentation What are the laboratory examinations planned?
A. Blood gas analysis
B. Blood gas analysis, serum electrolyte
C. Blood gas analysis, serum electrolyte, blood sugar level
 D. Blood gas analysis, serum electrolyte, thyroid function
E. Blood gas analysis, serum electrolyte, cortisol (mengarah adrenal deficiency)

39. M, 1 year old, was consulted due to ambiguous genitalia. Laboratory showed 17-OH
progesterone was 173 ng/dL (7-77 ng/dL) and karyotyping was 46 XX; blood glucose: 25
mg/dl; natrium: 123 mmol/L; Kalium 6 mmol/L. What is the diagnosis of this patient?
A. 46 XX, DSD due to CAH
B. CAH + hypoglycemia
C. CAH + hyperkalemia
D. 46 XX, DSD due to CAH, hyponatremia, hyperkalemi, hypoglycemia
E. Shock septic + secondary adrenal crisis

40. Boys ages of 3 years were treated with septic shock suffered prolonged shock and persistent
hyponatremia despite given fluid resuscitation, correction of hyponatremia and administration of
inotropic drugs. This is because these children are in a state of:
a. primary adrenal crisis (organ target adrenal)
b. Secondary adrenal crisis (non adrenal) misal shock septik
c. not adequate correction of sodium
d. antibiotics are less adequate
e. fluid resuscitation is less adequate

41. A l0 year-old obese boy has central fat distribution, arrested growth, hypertension, plethora,
purple striae, and osteoporosis.
Which of the following disorders is most likely to be responsible for the clinical
picture that this boy presents?
a. Bilateral adrenal hyperplasia  CAH
b. Adrenal adenoma
c. Adrenal carcinoma
d. Craniopharyngioma  menghambat hypothalamus-hipofisis
e. Ectopic adrenocorticotropin-producing tumor

Working Dx : Ectopic adrenocorticotropin-producing tumor

DD :
 adrenocortical tumors: The second most common manifestation is with
hypercortisolism (Cushing's syndrome), whilst presentation with a palpable abdominal
mass is unusual. Cushing's syndrome is a relatively more common presentation in
adolescents and young adults.
 Cushing
42. A child has obesity. with striae and hypertention and short stature. Select the most
appropriate diagnosis:
A. Portal hypertention
B. Nephrotic syndrome
C. Turner syndrome
D. Cardiac failure
E. Cushing syndrome

o Signs of Cushing syndrome have been recognized in infants younger than 1 yr of age.
o The disorder appears to be more severe and the clinical findings more dramatic in
infants than in older children.
o The face is rounded, with prominent cheeks and a flushed appearance (moon
facies).
o Generalized obesity is common in younger children.
 o In children with adrenal tumors, signs of abnormal masculinization occur
frequently; accordingly, there may be hirsutism on the face and trunk, pubic hair,
acne, deepening of the voice, and enlargement of the clitoris in girls.
o Growth is impaired, with length falling below the 3rd percentile, except when
significant virilization produces normal or even accelerated growth.
o Hypertension is common and may occasionally lead to heart failure.
o An increased susceptibility to infection may also lead to sepsis.
o Purplish striae on the hips, abdomen, and thighs are common.
o Pubertal development may be delayed, or amenorrhea may occur in girls past
menarche. Weakness, headache, and emotional lability may be prominent.
o Hypertension and hyperglycemia usually occur
o Osteoporosis is common and may cause pathologic fractures.

DSD

43. (new) A newly born was referred to you with suspicion of ambiguous genitalia. You found
penile (phallus) length was 3.1 cm including well-formed corporal bodies and a urethral meatus
located at the tip. Scrotal folds were completely formed with midline fusion. What do you
consider to assess after found these data? Pastika testis nya teraba ato ngga
Kalo teraba  cek level testos
Scrotum baik tidak terbagi 2 (bifid) biasanya testosterone cukup untuk membuat bentuk
scrotum baik
Dx: CAH cowok  kortisol autosomal resesif
a. Check for blood testosterone level
b. Check for urine testosterone level
c. Check for similar family history
d. Presence of other organs anomaly
e. Testicular presence in the scrotum
44. Boys (kromosom XY) age of 7 days complaining of two seeds testes are not in the scrotum
bag, the physical examination showed palpable both testes in inguinal. What is the priority
inspection immediately must be done to determine the prognosis of the child?
A. Testicle Ultrasound
B. analysis of chromosome
C. hormones FSH and LH
D. testosterone hormone with stimulation
E. the testosterone hormone randomly
2 bulan mini puberty  beta HCG test
UDT bila dilihat hingga usia 6 bulan è tidak perlu testosterone stimulation
Usia 2 bln : bayi masuk ke fase minipuberty

Paratiroid
45. A 4 year-old child has mental retardation, shortness of stature, brachydactyly (especially of
the fourth and fifth digits), and obesity with round facies and short neck. The child is followed
by an ophthalmologist for subcapsular cataracts, and has previously been noted to have
cutaneous, subcutaneous, and perivascular calcifications of the basal ganglia.

This patient is likely to have which of the following features?

A. Hypercalcemia
B. Hypophosphatemia
C. Elevated concentrations of parathyroid hormone
D. Advanced height age
E. Decreased bone density, particularly in the skull
 Two types of hyperparathyroidism exist.
 In primary hyperparathyroidism, an enlargement of one or more of the
parathyroid glands causes overproduction of the hormone. This causes high
calcium levels in the blood, which can cause a variety of health problems.
Surgery is the most common treatment for primary hyperparathyroidism.
 Secondary hyperparathyroidism occurs due to another disease that first causes
low calcium levels in the body.
 Over time, increased parathyroid hormone levels occur.
 Mayo Clinic
(https://www.mayoclinic.org/diseases-conditions/hyperparathyroidism/
symptoms-causes/syc-20356194)
 Hyperparathyroidism - Symptoms and causes Learn about symptoms, tests and
treatment for hyperparathyroidism — a condition caused by overactivity of the
parathyroid glands.

Symptoms may be so mild and nonspecific that they don't seem related to
parathyroid function, or they may be severe. The range of signs and symptoms
include:
 Osteoporosis
 Kidney stones
 Excessive urination
 Abdominal pain
 Tiring easily or weakness
 Depression or forgetfulness
 Bone and joint pain
 Frequent complaints of illness with no apparent cause
 Nausea, vomiting or loss of appetite
o Fahr’s syndrome : basal ganglia calcification

Sindrom
46. In a child with suspected genetic disorder and the clinical abnormalities of Simian creases
choose the single most likely diagnosis from the list of options:
A. Prader willi syndrome
B. Down syndrome
C. Cockaynes Syndrome
D. Bloom’s syndrome
E. Hunter’s syndrome
 Simian crease  single tranverse palmar crease  down’s syndrome, fetal alcohol
syndrome, dan aarskog syndrome
47. For each of the following descriptions of clinical abnormalities choose the single most likely
genetic disorder of eye manifestations such as squints, refractive errors and Brushfield’s
spots.
a. Fragile X
b. Triploidy
c. Trisomy 9
d. Trisomy 18
e. Trisomy 21

 Keyword
o Eye manifestation : squints, refractive errors and Brushfield’s spots
(Brushfield spots are small, white or greyish/brown spots on the periphery of
the iris in the human eye due to aggregation of connective tissue, a normal
constituent of the iris stroma.).
48. In a child with a suspected genetic disorder and the clinical abnormalities of severe hypotonia at
birth. obesity. short stature. small hand and feet. hypogonadism. and mental retardation:
A. Bloom’s syndrome
B. Cockayne’s syndrome
C. Down's syndrome
D. Hunter's syndrome
E. Prader-willi syndrome
49. A term 36-hour-old male infant is hypoglycemic in the nursery with a plasma blood glucose of
18 mg/dL. His birth weight was 4200 grams. On examination, he has macroglosia and
umbilical hernia. Which of the following is the most likely cause of his hypoglycemia?
A. Congenital hyperinsulinism
B. Growth hormone deficiency
C. Large for gestational age
D. Gonadotropin deficiency
E. Beckwith–Wiedemann syndrome