DOI: http://dx.doi.org/10.18203/2320-1770.ijrcog20213504

Secondary amenorrhea in a case of gonadotropin independent precocious puberty: McCune-Albright syndrome

Sridhar Subbiah, Roshan Nazirudeen, Sundari Natarajan, Vasanthiy Vasanthiy, Sangumani Jayaraman

Abstract


Precocious puberty may be gonadotropin dependent or gonadotropin independent and due to a myriad of causes including syndromic association. McCune-Albright syndrome (MAS) is a rare disorder, characterized by the triad of precocious puberty, polyostotic fibrous dysplasia of bone and café-au-lait macules. Here, we describe a case of childhood onset gonadotropin independent precocious puberty who presented at 19 years of age with secondary amenorrhea. On detailed evaluation, she was found to have multiple café au lait spots and polyostotic fibrous dysplasia and diagnosis of MAS were made. Typically, the lesions of fibrous dysplasia are most active during childhood and adolescence, tending to become quiescent in adult life, new active lesions being rare in adults. In our case, despite fibrous dysplasia being asymptomatic on presentation, there were multiple active polyostotic lesions with bilateral encroachment of optic foramina, which is rare at this age. This case highlights the fact that careful examination for syndromic features and periodic follow up are important in all cases of precocious puberty.


Keywords


Precocious puberty may be gonadotropin dependent or gonadotropin independent and due to a myriad of causes including syndromic association. McCune-Albright syndrome (MAS) is a rare disorder, characterized by the triad of precocious puberty, polyostotic fi

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References


de Castro LF, Ovejero D, Boyce AM. Diagnosis of endocrine disease: Mosaic disorders of FGF23 excess: Fibrous dysplasia/McCune–Albright syndrome and cutaneous skeletal hypophosphatemia syndrome. Eur J Endocrinol. 2020;182(5):83-99.

Corica D, Aversa T, Pepe G, De Luca F, Wasniewska M. Peculiarities of precocious puberty in boys and girls with McCune-Albright syndrome. Front Endocrinol (Lausanne). 2018;9:337.

Boyce AM, Collins MT. Fibrous dysplasia/McCune-Albright syndrome: a rare, mosaic disease of Gα s activation. Endocr Rev. 2020;41(2):345-70.

Javaid MK, Boyce A, Appelman-Dijkstra N, Ong J, Defabianis P, Offiah A, et al. Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium. Orphanet J Rare Dis. 2019;14(1):1-17.

Spencer T, Pan KS, Collins MT, Boyce AM. The clinical spectrum of McCune-Albright syndrome and its management. Horm Res Paediatr. 2019;92(6):347-56.

Lazar L, Meyerovitch J, de Vries L, Phillip M, Lebenthal Y. Treated and untreated women with idiopathic precocious puberty: long‐term follow‐up and reproductive outcome between the third and fifth decades. Clin Endocrinol (Oxf). 2014;80(4):570-6.

Subbiah S, Palikhe G, Bhadada SK, Mukherjee KK, Bhansali A. Acrogigantism and facial asymmetry: McCune-Albright syndrome. J Pediatr Endocrinol Metab. 2011;24(9-10):835-7.

Kumar M, Mukhopadhyay S, Dutta D. Challenges and controversies in diagnosis and management of gonadotropin dependent precocious puberty: an Indian perspective. Indian J Endocrinol Metab. 2015;19(2):228.