JAFES-Booklet (English - pdf - 1103 Kb) - MEMS

McCune-Albright Syndrome
Dr. Suhaimi Hussain
Introduction / Aims: McCune-Albright syndrome is diagnosed when at least two features of the triad
of polyostotic fibrous dysplasia, café au lait skin pigmentation and autonomous endocrine hyperfunction
are present.
It is most commonly diagnosed in young children. We report a 7 months old girl with McCune-
Albright syndrome
Results: A 7- months’ old girl presented with pervaginal bleeds, bilateral breast budding and
multiple popular rashes over the face. She is an ex-premature 25th week gestational age and was
born with birth weight of 700gram. She had a stormy neonatal period in which she was warded for 3
months.
She had fulfilled two out of three clinical triads for the diagnosis of McCune-Albright syndrome.
1. Peripheral precocious puberty
LH < 0.1, FSH 4.8 m IU/ ml
Oestradiol 1020 pmol/l and repeat test after one month 280 pmol/l
2. Typical café au lait pigmentation with irregular borders (Coast of Maine)
The source of high oestradiol is from the follicular cysts as confirmed by ultrasound study.
Treatment : Tamoxifen (aromatase inhibitor) 10 mg daily.
For the purpose of confirmation, tissue biopsy to look for mutation of Gs protein alpha subunits from
of follicular cysts fluid is needed.
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