A Case of Primary Hypogonadism with Features of Albright's Syndrome.

Authors:
Dr Moushumi Lodh, MD, MBA
Dr Moushumi Lodh, MD, MBA
HEALTHWORLD HOSPITAL
LAB DIRECTOR
Durgapur, West Bengal | India
Rajarshi Mukhopadhyay
Rajarshi Mukhopadhyay
Institute of Ophthalmology
United Kingdom

J Reprod Infertil 2016 Jul-Sep;17(3):188-90

Department of Endocrinology, Mission Hospital, Durgapur, West Bengal, India.

Background: McCune Albright syndrome is rare with an estimated prevalence of 1 in 100,000 to 1 in 1,000,000 persons. The classical clinical triad consists of fibrous dysplasia of the bone, café-au-lait skin spots and precocious puberty. However, in rare cases, there may be primary hypogonadism and amenorrhea.

Case Presentation: An eighteen-year-old female presented with amenorrhea. She had a short stature, round face, thick neck, and short fourth metacarpals and metatarsals. The secondary sexual characters were absent. Serum calcium, phosphorus and parathyroid concentrations were normal, but gonadotropin hormones were very low. X-ray examination revealed short fourth and fifth metacarpals, short left metatarsal, and short fibula.

Conclusion: These local bony abnormalities along with the biochemical findings helped us to diagnose this case as an unusual presentation of primary hypogonadism with features of McCune Albright's syndrome where there was amenorrhea rather than preocious puberty.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4947208PMC

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August 2016
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