a 2-year-old child with virilization
DESCRIPTION
Presented by Dr. Sandesh Panthi (Phase B resident) in the weekly case presentation on 4th June, 2013 in the Department of Endocrinology, BSMMUTRANSCRIPT
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