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Related Experiment Videos

McCune Albright Syndrome (MCAS): a case series.

Sudha Rao1, M P Colaco, M P Desai

  • 1Bai Jerbai Wadia Hospital for Children Institute of Child Health and Research. Acharya Dhonde Marg, Parel, Mumbai, India. c_sudha@hotmail.com

Indian Pediatrics
|January 30, 2003
PubMed
Summary

McCune Albright Syndrome (MCAS) in young children often presents with café-au-lait spots and fibrous dysplasia. This study found gonadotropin-independent precocious puberty was the primary endocrine issue, responding to treatment.

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Area of Science:

  • Pediatric Endocrinology
  • Genetics and Rare Diseases
  • Skeletal Dysplasias

Background:

  • McCune Albright Syndrome (MCAS) is a rare genetic disorder.
  • Characterized by café-au-lait macules, polyostotic fibrous dysplasia, and endocrine dysfunction.
  • More prevalent in females.

Observation:

  • Seven pediatric cases (6 female, 1 male) under six years old were evaluated.
  • All presented with large café-au-lait spots; 5 had polyostotic fibrous dysplasia.
  • Six girls exhibited precocious puberty with elevated estradiol and prepubertal gonadotropins.

Findings:

  • Gonadotropin-independent precocious puberty was the sole endocrine manifestation in this cohort.
  • Medroxyprogesterone acetate treatment led to cessation of menses and ovarian follicle regression in some.

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  • Skeletal and skin lesions remained unchanged; accelerated linear growth persisted in some patients.

    • Implications:

    • Highlights precocious puberty as a key endocrine feature of MCAS in early childhood.
    • Suggests medroxyprogesterone acetate as a potential treatment for sexual precocity in MCAS.
    • Emphasizes the need for monitoring growth and endocrine status in affected children.