Presenter Dr. Sandesh Panthi

Phase B residentDepartment of Endocrinology

BSMMU

2 year Female Admitted on 22/05/13

Appearance of pubic hair and enlargement of

clitoris for one & half years

Completely normal at birth

Normal attainment of milestones till date

No history of breast enlargement or cyclical PV bleeding

No history suggestive of ◦ Adrenal insufficiency◦ Increasing pigmentation◦ Androgen exposure in intrauterine life

Herbal remedy tried for 4-5 months,6 months after 1st noticing the anomaly but with no improvement

Birth & development history Full term vaginal delivery at hosp. H/O birth asphyxia Continuing immunization as per EPI

Family history No consanguinity among parents Only child till date Neither her father nor mother are affected

Healthy, cheerful child Height: 82 cms Weight :24 kgs BP 90/60 mm Hg

Multiple lymph nodes on posterior cervical chain of both sides, 0.5 cm in diameter, discrete, firm, non tender, mobile

No breast enlargement

No palpable mass in abdomen, groin or labial regions

This photograph is used with written informed consent of guardian

Pubic hair :Tanner stage III

Clitoris :Length 10 mmWidth 5 mm

Virilizing forms of CAH

Androgen secreting tumor

C.B.C: Hb.:11gm/dl

TC:7500/mm3

DC:N32 L60 M04 E04

Plt.:340000/mm3

ESR:20mm/1st hr

S. SGPT: 35u/l

S. Creatinine: 0.4mg/dl S. Electrolytes: Na 140, K 3.6, Cl 100, TCO2 20 mmol/L

S. Testosterone 184.8ng/dl (upto 8ng/ml)

S. DHEA-S 968.20mcg/dl (5-40mcg/dl)

Plasma ACTH 26.3pg/ml (nd to 46pg/ml)

S. Basal Cortisol 255nmol/l(138-690)

S. 17-OH Progesterone 308 ng/dl (70-270)

Karyotyping: 46,XX

Short ACTH stimulation test: 1hr after 250 mcg synacthen IM values

S.Cortisol: 446.5nmol/l

S.17-OH Progesterone: 326 ng/dl

Whole Abd - Normal study

Adrenals appear normalAccessory spleen noted

Lower Abd - Uterus normal in size, anteverted with uniform

myometrial echotexure Both ovaries could not be distinguished

CAH due to 3β-HSD deficiency

Androgen secreting adrenal tumor

Points in Favour Points Against

Presentn.in early infancy No Hypertension Elevated DHEA-S Failure of 17 OHP levels

to rise following ACTH stimuln.

30-40% cases have no salt wasting

Extremely rare No evidence of adrenal

insufficiency No evidences of ACTH

excess No evidence of salt

wasting

Points in Favour Points Against

Virilization with onset 6 months after birth

Bimodal incidence ACTH not suppressed

Elevated 17-OHP and grossly elevated DHEA-S and testosterone

Rare No abd.mass palpable Normal cortisol levels (as

tumors often secrete cortisol and androgens in conjunction)

Highly aggressive malignant tumors

Points in favour Points against

Presentation:Newborn to 2yrs age

No evidence of adrenal insufficiency

No HTN No evidence of salt

wasting Elevated DHEA-S and

testosterone

Rare (1:60,000) Near normal cortisol

values No evidences of ACTH

excess Unsatisfactory rise of

17OHP following ACTH stimuln.(expected range:2500-5000ng/dl)

Points in favour Points against

Common(1:1000) No evidences of adrenal

insufficiency or salt wasting Elevated DHEA-S Impaired cortisol response to

ACTH(30%cases-prone to stress induced ad.insufficiency)

Onset usually in late childhood or early adulthood

Unsatisfactory rise in 17OHP following ACTH stimuln.(expected:500-2500ng/dl)

Points in favour Points against

Relatively common(1:15000)

Menifestation between birth to 6 months

No HTN Elevated DHEA-S

No evidence of salt wasting(75% have clinically menifest aldosterone deficiency)

No evidencesof adrenal crisis or ACTH excess

Low post ACTH stimuln.17OHP(>5000ng/dl expected)

Near normal cortisol

Points Against:

• Rare(1:100000)• No HTN• Normal ACTH and near normal cortisol• No hypernatremia with hypokalemia• Near normal 17OHP

CECT of Abdomen focusing on Adrenals

Post ACTH stimulation 17 OH Pregnanolone level estimation

Left adrenal - A rounded enhancing soft tissue mass measuring about 2.5 X 2.5 cm, arising from lateral limb of left adrenal gland compressing the upper pole of left kidney.

Right adrenal gland is normal in size

Suggestive of left adrenal mass

Further diagnostic procedures?

Management plan?

My patient & her attendants Prof.Md.Fariduddin Dr.M.A Hasanat Seniors & colleagues of Endocrinology

department