ผปวยรายท 7

ทารกแรกเกดอาย 17 วน มารดาพามาโรงพยาบาลดวยอาการ อาเจยนมากมา 2 วน

ประวตปจจบน 3 วนกอนมาโรงพยาบาล เรมมอาการทองอด อาเจยนหลงกนนมเกอบทกครง ไมมไข ถายอจจาระเหลววนละหลาย

ครง อจจาระเปนนำา ไมมมกเลอด อาเจยนเปนบอยขน เพลยมาก วนนดซมลง ปสสาวะปรมาณลดลง จงพามาโรงพยาบาล

ประวตอดต บตรคนแรก ประวตการฝากครรภปกต ไมไดกน ยาฮอรโมนใดๆ ระหวางตงครรภ นำาหนกแรกเกด 3.1 กก. หลงค

ลอดอยโรงพยาบาล 2 วน กนนมแมอยางเดยว

Physical examination• Vital signs : BT 37 c, PR 160/min, BP 70/50 mmHg, RR 60/min

• General appearance : A Thai infant, acutely ill, marked dehydrated

• HEENT : anterior fontanelle depressed, sunken eyeballs, not pale, dry lip and buccal mucosa

• Genitalia : ambiguous genitallis with phallus of 1.5x2 cm, hyperpigmented labioscrotal folds, posterior labial fusion, no gonad palpable

• Skin : generalized hyperpigmentation, marked hyperpigmentation at areolar, axilla and genitalis

Laboratory

• CBC : Hb 10.4 gm/dl, Hct 39%, WBC 5,937 cell.cu.mm., PMN 34%, L 64%, M 11%

• Electrolyte : Na 118 ,K 6.4, Cl 77, CO2 16 mmol/L, BS 40 mg%, serum cortisol 5 mcg/dL

• Chromosome study 46,XX

• 1. จงบอกปญหาของผปวยรายน

• Vomiting• Diarrhea• Fatigue • Oliguria

• Anterior frontanelle depressed,sunken eye balls, dry lips

• Ambiguous genitalia with phallus

• Generalized hyperpigmentation, marked at areolar, axilla and genitalia

• Hyponatremia• Hyperkalemia • Low Serum cortisol • +/- hypoglycemia

Pertinent subjective Pertinent objective

Problem lists

1. Adrenal crisis [severe hyponatremia and hyperkalemia,acidosis,low serum cortisol]

2. Vomiting and diarrhea with moderate to severe dehydration

3. Ambiguous genitalia with phallus [XX DSD]4. Generalized hyperpigmentation5. +/- hypoglycemia

• ambiguous genitallia with phallus of 1.5x2 cm

• hyperpigmented labioscrotal folds• posterior labial fusion• no gonad palpable

Ambiguous genitalia

• คลำา gonad ไดทง 2 ขาง และสมดล– underviirilized male

• คลำ� gonad ไมพบทง 2 ข�ง• คลำา gonad ไดขางเดยว– True hermaphoditism– Mixed gonadal dysgenesis

คลำา gonad ไมพบทง 2 ขาง• Congenital adrenal hyperplasia• Placental aromatase deficiency• Exogenous androgen expose• SRY translocation• SOX-9 duplication

Provisional diagnosis

• Congenital adrenal hyperplasia due to 21-hydroxylase deficiency

• 2. บอกแนวทางการรกษาในผปวยรายน

Immediate action• Send blood for serum progesterone, 17-OHP [greater than

3500 ng/dL (105 nmol/L)], testosterone

• Start NSS 20 ml/kg IV drip in 30 minutes and give hydrocortisone 25 mg IV bolus stat

• Run an EKG [tall peaked T wave with shortened QT interval, followed by progressive lengthening of the PR interval and QRS duration]

• Then Hydrocortisone 100 mg/m2/day divided into /every 6 hours

• 5%D/NSS (MT+10%deficit)

• During treatment with stress doses of hydrocortisone, mineralocorticoid replacement is unnecessary.

BSA = sqr(Height * Weight / 3600)

17 OHP• In children, a morning basal 17-hydroxyprogesterone value

greater than 82 ng/dL (2.5 nmol/L) strongly suggests the diagnosis of nonclassic congenital adrenal hyperplasia (NCCAH).

• Based upon available data, corticotropin (ACTH) stimulation testing is not necessary in children with a basal 17-hydroxyprogesterone either less than 82 ng/dL (2.5 nmol/L) or greater than 200 ng/dL (6 nmol/L).

• However, follow-up ACTH stimulation testing should be performed in children whose baseline values fall between 82 and 200 ng/dL (2.5 to 6 nmol/L).

Management

• Medications and dosing – A typical starting dose of hydrocortisone is 20 to

30 mg/m2/day divided thrice daily (ie, 2.5 mg three times a day)

– fludrocortisone 100 mcg twice daily– one gram or 4 mEq/kg/day of sodium chloride divided in

several feedings. – Laboratory assessment should be performed no more than

10 to 14 days after starting treatment. – Repeat blood sampling and blood pressure monitoring at

least monthly during the first three months of life.

• Ambiguous genitalia– Infants with ambiguous genitalia require urgent

medical attention. – Girls with classic CAH typically undergo

reconstructive surgery, usually clitoroplasty and vaginoplasty [The initial evaluation should include history, physical examination, pelvic ultrasonography to evaluate internal genitalia (uterus) and possibly adrenals, karyotype or fluorescence in situ hybridization (FISH) for sex chromosome (SRY probe) material (if not available from prenatal testing), and rapid and reliable measurement of 17-hydroxyprogesterone and serum electrolytes.]

• Family coping — The birth of an infant with ambiguous genitalia is a psychosocial emergency for the family. An appropriate therapeutic plan can be developed only with the full participation of the parents, after a careful and complete evaluation by an experienced team of endocrinologists, geneticists, and surgeons, aided by individuals capable of sophisticated psychosocial support.