3 Year Old Girl Vaginal Bleeding -...
Transcript of 3 Year Old Girl Vaginal Bleeding -...
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3 Year‐Old Girl with Vaginal Bleeding
Kristen Dillard, M.D.
January 10, 2013
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History of Present Illness
• 3 y 11 mo girl presents with breast development x 1 week and vaginal bleeding x
2 days• Evaluation in the ED was negative for trauma• Denies exposure to estrogen‐containing
products, steroids, tea tree oil • Has always been tall, no noticeable growth
spurt • No acne, no mood changes
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Past History
Past Medical History
•Eczema
Birth History
•Full term, NSVD
Past Surgical History
•None
Allergies
•None
Medications
•Hydrocortisone 2.5% cream
•Ketoconazole 2% shampoo twice weekly
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History cont’d
Family History
•Mother: 68 inches tall
•Father 68 inches tall•No early or late puberty•No ovarian, uterine
cancers
Social History
•Lives with her mother, father, 2 older brothers and a younger sister.
Attends pre‐school.
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Review of Systems
• Constitutional: Negative for weight gain or appetite change• HENT: Negative for congestion and rhinorrhea • Respiratory: Negative • Cardiovascular: Negative • Gastrointestinal: Negative for abdominal pain• Genitourinary: + vaginal bleeding and vaginal discharge• Musculoskeletal: Negative for myalgia • Skin: + Breast development x 1 week. Brown "birthmarks”
increased number since age 1 year• Neurological: Negative for headaches• Psychiatric/Behavioral: Negative for behavioral problems
and agitation
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Physical Exam
• BP 100/56 HR 120 Ht: 106.2 cm (91%ile) Ht age: nearly 5 years
Wt: 17.5
kg (80%ile) BMI 15.6 kg/m2 (57%ile)
• Constitutional: Well‐developed and well‐nourished. Playful.• HENT: Normal dentition • Neck: No goiter. No adenopathy. • Cardiovascular: RRR no murmurs • Pulmonary/Chest: CTAB. Bilateral breast buds• Abdominal: Soft. No distension and no mass. No hepatosplenomegaly.• Genitourinary: Many Tanner II hairs on the mons pubis. Hyperpigmented
labia minora, dried blood intralabialy, no clitoromegaly, no lesions or
bruising. Diaper was partially covered in brownish‐red blood with few
clots
• Musculoskeletal: Normal range of motion. • Neurological: Normal DTRs. CN intact bilaterally.• Skin: 3 cm brown macule with jagged borders on left posterior thigh, 1
cm brown macule with smooth borders on lateral right brow, 2 x 0.5 cm
macules on back and left hand. No axillary hair, acne or hirsutism.
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Differential Diagnosis: Precocious Puberty
• Gonadotropin‐Dependent– Idiopathic – Hypothalamic hamartomas
– CNS tumors
– Suprasellar defects (ex: Rathke cleft cysts)
– Trauma
– Neurofibromatosis type 1
– Primary hypothyroidism‐
Van Wykc‐Grambauch
• Gonadotropin‐Independent – Estrogen overproduction:
• Ovarian cysts• Ovarian granulosa cell tumors• McCune‐Albright syndrome• Sertoli‐Leydig cell tumors (+/‐
Peutz‐Jeghers syndrome)
– Androgen overproduction• Non‐classic CAH• Androgen‐secreting adrenal
tumors
• Ovarian hyperthecosis
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Evaluation
7:52 am •LH <0.1 mIU/mL•FSH <0.1 mIU/mL•Estradiol 48 pg/mL (4‐12) •DHEA‐SO4 <15 ug/dL
•Bone age: 4 years 3 months at chronological age 3 years 11 months (SD +/‐
7‐8 months)
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Transabdominal Pelvic Ultrasound
Normal left ovary: 2.1 x 1.3 x 1.6 cm.
• Enlarged uterus with pubertal
configuration: 4.3 x 1.7 x 2.7 cm
• Cystic lesion of right ovary with
slight irregularity of its wall
measuring 4.6 x 3.3 x 2.5 cm
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Diagnosis
• Gonadotropin‐independent precocious puberty due to autonomous estrogen
production from a large solitary ovarian cyst
• Plan:– Recheck U/S in 2‐3 weeks due to size– Counseled on risk of ovarian torsion– Consider McCune‐Albright if recurs
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Follow‐Up: 8 weeks
1 week later •Cessation of menses,
regression of breast tissue •Growth of 1.8 cm in 1.5
months
8:20 am •LH <0.1 •FSH 1.4 •Estradiol 4 pg/mL
Pelvic Ultrasound•Uterus: Decreased from 4.3
x 1.7 x 2.7 cm to 2.0 x 0.9 x 1.4 cm
•Right ovary: Decreased from 4.6 x 3.3 x 2.5 cm to
2.6 x 1.1 x 1.3 cm– Cyst max diameter 4.6 cm
2.4 cm
•Left ovary: stable
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McCune‐Albright
• Somatic mutation of Gs
α
protein‐constitutive
activation of cAMP– Endo: activation of TSH, GH,
ACTH
– Non‐Endo: tachycardia, liver
disease, hypophos
• Classic triad:• Sexual precocity with
recurrent ovarian cysts absent
gonadotropins
• Café‐au‐lait macules– Irregular borders, segmental
• Polyostotic fibrous dysplasia
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McCune‐Albright
• May present diagnostic challenge in young girls– Frequency and characteristic s of recurrent ovarian
cysts are not predictive1
– 1‐5 Café‐au‐lait
macules
are found in up to 10% of healthy individuals
– Sexual precocity may pre‐date bone changes by many years2
• Early detection enhanced by technetium‐99m methylene
diphosphonate
– Molecular analysis is limited by large variation in distribution and degree of Gs
α
mutation within indiv
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References
1.
Rodriguez‐Macias et al. Follow up of precocious pseudopuberty
associated with isolated ovarian
follicular cysts. Arch Dis
Chid
1999; 81:53‐56
2.
Frisch LS, Copeland KC, Boepple
PA. 1992 Recurrent ovarian cysts in childhood: diagnosis
of McCune‐Albright syndrome by bone scan. Pediatrics 90(1): 102‐104.
3.
Levine M. 1991 The McCune‐Albright syndrome. NEJM
325 (24): 1738‐1740.