Epidermal naevus syndrome associated with polyostotic fibrous dysplasia and central precocious puberty

Infantile Cushing’s syndrome is potentially found as part of McCune-Albright syndrome (MAS) which is caused by postzygotic somatic mutations of the GNAS gene. MAS is typically characterized by a triad of polyostotic fibrous dysplasia, café-au-lait skin pigmentation, and precocious puberty or other endocrine hyperfunction. Here, we describe a 2-month-old female infant with features of Cushing’s syndrome without café au lait spots, polyostotic fibrous dysplasia, and clinical evidence of other endocrine hyperfunction. Investigations demonstrated adrenocorticotropic hormone-independent Cushing’s syndrome with bilateral adrenal gland enlargement. Whole-exome sequencing of leukocytes identified a de novo heterozygous novel missense mutation (c.521G>A, p.Cys174Tyr) in the GNAS gene. The patient experienced clinical improvement of Cushing’s syndrome during ketoconazole treatment. Her clinical course was complicated by Pneumocystis jiroveci pneumonia. She also had shortened activated partial thromboplastin time indicating a hypercoagulable state and resulting in pulmonary embolism. She eventually manifested gonadotropin-independent precocious puberty at the age of 13 months after ketoconazole was discontinued. This patient demonstrated that Cushing syndrome can be the presenting sign of MAS in infancy. A high index of suspicion followed by genetic analysis is essential in order to establish a diagnosis.

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

International Journal of Reproduction Contraception Obstetrics and Gynecology ◽

10.18203/2320-1770.ijrcog20213504 ◽

2021 ◽

Vol 10 (9) ◽

pp. 3636

Author(s):

Sridhar Subbiah ◽

Roshan Nazirudeen ◽

Sundari Natarajan ◽

Vasanthiy Vasanthiy ◽

Sangumani Jayaraman

Keyword(s):

Fibrous Dysplasia ◽

Precocious Puberty ◽

Adult Life ◽

Careful Examination ◽

Childhood And Adolescence ◽

Polyostotic Fibrous Dysplasia ◽

Mccune Albright Syndrome ◽

Secondary Amenorrhea ◽

Albright Syndrome ◽

Mccune Albright

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.

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Albright's Syndrome Presenting as Thyrotoxicosis: Follow-up of a Case

PEDIATRICS ◽

10.1542/peds.63.1.159 ◽

1979 ◽

Vol 63 (1) ◽

pp. 159-162

Author(s):

Samuel M. Richton ◽

Noel K. Maclaren ◽

Judith V. McLaughlin ◽

Salvatore Raiti

Keyword(s):

Fibrous Dysplasia ◽

Precocious Puberty ◽

Early Age ◽

Endocrine Glands ◽

Polyostotic Fibrous Dysplasia ◽

Autonomous Functioning

In 1937, Albright and colleagues1 reported a syndrome triad consisting of precocious puberty, cutaneous pigmentation, and polyostotic fibrous dysplasia of bones. More recently, a number of hormone excess endocrinopathies have been described as part of the syndrome, as reviewed by Hall and Warrick2 and DiGeorge.3 The reason for the autonomous functioning of diverse endocrine glands remains unknown. In 1970, Levitsky et al1 reported in this journal a 7-month-old who at that early age had symptoms of severe thyrotoxicosis. The purpose of this report is to present a follow-up of this interesting patient, in whom there developed findings consistent with Albright's syndrome.

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A rare case of McCune Albright syndrome

International Journal of Reproduction Contraception Obstetrics and Gynecology ◽

10.18203/2320-1770.ijrcog20191979 ◽

2019 ◽

Vol 8 (5) ◽

pp. 2115

Author(s):

Pooja Patil ◽

Siftie-Kaur Banga

Keyword(s):

Fibrous Dysplasia ◽

Precocious Puberty ◽

High Serum ◽

Pelvic Bone ◽

Polyostotic Fibrous Dysplasia ◽

Mccune Albright Syndrome ◽

Albright Syndrome ◽

Clinical Triad ◽

Mccune Albright ◽

Rule Out

McCune Albright syndrome is characterized by the clinical triad of precocious puberty, polyostotic fibrous dysplasia, and café-au-lait pigmentation. Authors reported the case of a 6 years old girl presenting with vaginal bleeding. Investigations showed high serum oestrogen levels, with low FSH and LH levels. Ultrasonography revealed a multiloculated right ovarian cyst. Based on the history and investigations, the patient was diagnosed as a case of precocious puberty. In order to rule out the presence of any ovarian malignancy, tumour markers were sent and found to be within the normal range. A CT pelvis was done which revealed fibrous dysplasia of the pelvic bone. The coexistence of precocious puberty with fibrous dysplasia confirmed the diagnosis of McCune Albright syndrome.

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