Characterization and Management of Testicular Pathology in McCune-Albright Syndrome

Boyce, Alison M; Chong, Wai Po; Shawker, Thomas H.; Pinto, Peter A.; Linehan, W. M.; Bhattacharryya, Nisan; Merino, María J.; Singer, Frederick R.; Collins, Michael T.

doi:10.1210/jc.2012-1791

Cited by 71 publications

(74 citation statements)

References 38 publications

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“…Recurrent ovarian cysts result in episodic estrogen production and intermittent vaginal bleeding, which may ultimately lead to bone age advancement and reduced adult height. Testicular involvement is common in boys, however precocious puberty develops only rarely [22]. Thyroid abnormalities affect approximately 2/3 of patients, half of which are associated with frank hyperthyroidism [23].…”

Section: Clinical Features Of Fd/masmentioning

confidence: 99%

“…Cancers reported in association with FD/MAS include bone [28], thyroid [29], breast [30, 31], and testicular [22]. Activating GNAS mutations have also been identified as early driver mutations for intraductal papillary mucinous neoplasms (IPMNs) [32], and these lesions along with rare cases of pancreatic cancer have been identified in patients with FD/MAS [33, 34].…”

Section: Clinical Features Of Fd/masmentioning

confidence: 99%

“…Precocious puberty in girls is managed by the aromatase inhibitor letrozole, which may be used in combination with leuprolide in patients with comorbid central puberty [18]. Precocious puberty in boys may be managed with a combination of an aromatase inhibitor and a testosterone receptor antagonist [22]. Similar to other disorders of FGF23 excess, hypophosphatemia is managed with oral phosphorus and calcitriol.…”

Section: Clinical Managementmentioning

confidence: 99%

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Fibrous Dysplasia/McCune-Albright Syndrome: Clinical and Translational Perspectives

Robinson

Collins

Boyce

2016

Curr Osteoporos Rep

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122

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Fibrous dysplasia (FD) is an uncommon and debilitating skeletal disorder resulting in fractures, deformity, functional impairment and pain. It arises from postzygotic somatic activating mutations in GNAS, in the cAMP-regulating transcript α-subunit, Gsα. Constitutive Gs signaling results in activation of adenylyl cyclase and dysregulated cAMP production. In the skeleton this leads to the development of FD lesions with abnormal bone matrix, trabeculae, and collagen, produced by undifferentiated mesenchymal cells. FD may occur in isolation or in combination with extraskeletal manifestations, including hyperfunctioning endocrinopathies and café-au-lait macules, termed McCune-Albright syndrome (MAS). This review summarizes current clinical and translational perspectives in FD/MAS, with an emphasis on FD pathogenesis, natural history, pre-clinical and clinical investigation, and future directions.

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Section: Clinical Features Of Fd/masmentioning

confidence: 99%

Section: Clinical Features Of Fd/masmentioning

confidence: 99%

Section: Clinical Managementmentioning

confidence: 99%

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Fibrous Dysplasia/McCune-Albright Syndrome: Clinical and Translational Perspectives

Robinson

Collins

Boyce

2016

Curr Osteoporos Rep

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122

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“…Even in the absence of precocious puberty, testicular pathology can be seen in boys with MAS, most commonly unilateral or bilateral macroorchidism [2]. One study evaluated 54 males with MAS and found that 44% had macroorchidism, including 13 of 26 children [18]. Only 21% presented with precocious puberty, which is in contrast to the high numbers of girls with MAS who initially present with signs of precocious puberty.…”

Section: Mccune-albright Syndrome In Boysmentioning

confidence: 99%

Treatment of Peripheral Precocious Puberty

Schoelwer

Eugster

2015

Endocrine Development

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There are many etiologies of peripheral precocious puberty (PPP) with diverse manifestations resulting from exposure to androgens, estrogens, or both. The clinical presentation depends on the underlying process and may be acute or gradual. The primary goals of therapy are to halt pubertal development and restore sex steroids to prepubertal values. Attenuation of linear growth velocity and rate of skeletal maturation in order to maximize height potential are additional considerations for many patients. McCune-Albright syndrome (MAS) and familial male-limited precocious puberty (FMPP) represent rare causes of PPP that arise from activating mutations in GNAS1 and the LH receptor gene, respectively. Several different therapeutic approaches have been investigated for both conditions with variable success. Experience to date suggests that the ideal therapy for precocious puberty secondary to MAS in girls remains elusive. In contrast, while the number of treated patients remains small, several successful therapeutic options for FMPP are available.

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“…Penile enlargement, macro-orchidism, café -au-lait macules, polyostotic fibrous dysplasia " T Leydig cell hyperplasia [104,105] hCG-secreting tumor Tumorigenesis; LH-like stimulation by hCG Underlying tumor effects " hCG, " T Tumor by imaging [106,107] 17 …”

Section: Tumorigenesismentioning

confidence: 99%

Testosterone exposure in childhood: discerning pathology from physiology

Cabrera

Rogol

2013

Expert Opinion on Drug Safety

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Contrasexual precocity in a girl or sexual precocity in a boy should prompt evaluation for causes of gonadotropin-independent pubertal changes. Initial biochemical evaluation includes a bone age, T, 17-hydroxyprogesterone, androstenedione, dehydroepiandrosterone sulfate (DHEA-S) and high sensitivity gonadotropin levels. The provider must query exposure to topical androgen-containing preparations as unintentional secondary exposure to topical T must be considered. Hyperandrogenism is temporally related to exposure of topical T and removal of exposure results in a marked decrease in serum T as well as resolution or stabilization of the signs and symptoms.

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Characterization and Management of Testicular Pathology in McCune-Albright Syndrome

Abstract: Contrary to prevailing thinking, the incidence of gonadal pathology in MAS is equal in males and females. The predominant histopathological finding was Leydig cell hyperplasia, which carries a low risk of malignant transformation and can be managed conservatively.

Cited by 71 publications

References 38 publications

Fibrous Dysplasia/McCune-Albright Syndrome: Clinical and Translational Perspectives

Fibrous Dysplasia/McCune-Albright Syndrome: Clinical and Translational Perspectives

Treatment of Peripheral Precocious Puberty

Testosterone exposure in childhood: discerning pathology from physiology

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