Case report

a 3 week old baby

with Disorder of Sex Development
IDENTITY :

Name : A

Age : 3 week old

Adress : Central Java

History Taking :
A 3 week old baby was administered from district hospital due to
genital ambiguity

The baby was born from G1P1A0, 22 years old mother, at term
pregnancy, previous gestational illness was denied.
Regular ANC visits to midwife and obstetrician (>4x).

The baby was delivered with SC by obstetrician, crying immediately,

birth of weight 3100 gram.
Infant male gender is stated by a pediatrician and already had a birth
certificate with male gender
At 1 month year old the Lab.examination : Treatment :
baby came to the Sodium : 128.2 mmol/l IVFD D51/2NS
hospital because of Potassium: 5.46 mmol/l 240/10/10 tpm+ NaCl 3
recurrent vomitus and % (4 meq) 65 ml in 500
was diagnosed with salt Chloride : 99.7 mmol/l
ml D51/2NS.
wasting CAH Calcium : 2.1 mmol/l
Nutrition: Breast milk
at ones pleasure
(ad.lib)
Physical Examination
Weight : 3,2 Kg BSA : 0,2
HR : 137x/mnt RR: 33x/mnt t: 36,8C
general condition : conscious, less active, spontaneous breathing (+),
Head : no dysmorphic face, no hypertelorism, no macroglossia
Thorax : symmetrical, normal breathing sound and heart sound
Abdomen, normal bowel sounds, and no enlargement found in spleen and
liver
warm in peripheral extremities (+) and capillary refill <2
No simian crease at extremities

Laboratory Examinations
Hb : 11.7 gr% GDS : 101mg/dl
Ht : 32.2 % Ureum : 52 mg/dl
Lekocyte : 16700 /UL Creatinin : 0,29 mg/dl
Platelets : 514300/UL Cortisol pagi 1,43 g/dl
Sodium : 135 mmol/l 17-OHP 351,2 nmol/L
Potassium : 5.6 mmol/l Testosteron 0,65 ng/ml
Chloride : 95 mmol/l Progesteron 21,10 ng/ml
Calcium : 2.2 mmol/l
Abdominal US result: Impression :There is no
testicles and tubular structure in the posterior
bladder. There is an appearance suggesting of
uterus
Treatment :

Hidrokortison Flourinef 1 tablet

10 mg/ BSA daily

NaCl 1,5 gr
/12 hours
The parents are concerned regarding to :

Should the baby be operated for gender determination?

Will the baby sociable with male/ female peers?

Should the medication be for a long life treatment?

Will the baby have offspring in the future?

How to manage the changes in birth certificate ?

How to explain it to the big family about the genders change?
Thank you