Neonatal Cushing Syndrome

Tatsi, Christina; Stratakis, Constantine A.

doi:10.1016/j.clp.2017.10.002

Cited by 27 publications

(15 citation statements)

References 82 publications

(109 reference statements)

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“…It arises due to GNAS activation in the fetal adrenal gland and presents exclusively during the first year of life [31, 32]. Infants are often born small for gestational age and can develop failure to thrive, feeding problems, Cushingoid features, hypertension, respiratory disease, or other signs of illness [33]. Symptoms can be insidious and nonspecific, which may lead to delayed diagnoses [31].…”

Section: Clinical Featuresmentioning

confidence: 99%

The Clinical Spectrum of McCune-Albright Syndrome and Its Management

et al. 2019

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McCune-Albright syndrome (MAS) is a rare, mosaic disorder presenting along a broad clinical spectrum. Disease arises from somatic-activating GNAS mutations, leading to constitutive Gα s activation and ligand-independent signaling of the Gα s-coupled protein receptor. The phenotype is largely determined by location and extent of tissues in which the GNAS mutation is expressed, as well as the pathophysiologic effects of Gα s activation within these tissues. Patients present clinically with a variable combination of fibrous dysplasia of bone (FD), café-au-lait skin macules, and hyperfunctioning endocrinopathies. In bone, Gα s leads to impaired differentiation of skeletal stem cells and formation of discrete, expansile FD lesions, resulting in fractures, pain, and functional impairment. A systematic approach to diagnosis and management is critically important to optimize outcomes for patients with FD/MAS. There are no medical therapies capable of altering the disease course in FD; however, screening and treatment for endocrinopathies can mitigate some skeletal morbidities. This review summarizes current understanding of MAS pathophysiology, describes the spectrum of clinical features, and includes a detailed discussion of the recommended approach to diagnosis and management.

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Section: Clinical Featuresmentioning

confidence: 99%

The Clinical Spectrum of McCune-Albright Syndrome and Its Management

et al. 2019

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“…PitBs differ from PAs in terms of their histological characteristics (since these are embryonic tumors) but given the potential for hormone production, they should be considered in the context of pituitary tumors. ACTH-secreting PitBs, although extremely rare, are almost always associated with DICER1 mutations [81,82]. They are always diagnosed in infants and toddlers, less than 24 months of age [82].…”

Section: Dicer1mentioning

confidence: 99%

“…ACTH-secreting PitBs, although extremely rare, are almost always associated with DICER1 mutations [81,82]. They are always diagnosed in infants and toddlers, less than 24 months of age [82]. Their management involves, in most cases, surgical removal, while at least one of the patients was treated with TMZ and radiation therapy.…”

Section: Dicer1mentioning

confidence: 99%

“…Their management involves, in most cases, surgical removal, while at least one of the patients was treated with TMZ and radiation therapy. Four of the eleven reported patients died from complications of their disease, while at least two patients experienced recurrence [82]. Since PitBs are a rare association of DICER1 syndrome, routine screening with imaging or biochemical studies is not currently recommended for patients with DICER1 syndrome [83].…”

Section: Dicer1mentioning

confidence: 99%

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The Genetics of Pituitary Adenomas

Tatsi

Stratakis

2019

JCM

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The genetic landscape of pituitary adenomas (PAs) is diverse and many of the identified cases remain of unclear pathogenetic mechanism. Germline genetic defects account for a small percentage of all patients and may present in the context of relevant family history. Defects in AIP (mutated in Familial Isolated Pituitary Adenoma syndrome or FIPA), MEN1 (coding for menin, mutated in Multiple Endocrine Neoplasia type 1 or MEN 1), PRKAR1A (mutated in Carney complex), GPR101 (involved in X-Linked Acrogigantism or X-LAG), and SDHx (mutated in the so called "3 P association" of PAs with pheochromocytomas and paragangliomas or 3PAs) account for the most common familial syndromes associated with PAs. Tumor genetic defects in USP8, GNAS, USP48 and BRAF are some of the commonly encountered tissue-specific changes and may explain a larger percentage of the developed tumors. Somatic (at the tumor level) genomic changes, copy number variations (CNVs), epigenetic modifications, and differential expression of miRNAs, add to the variable genetic background of PAs.

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“…Fraumeni syndrome, and rarely associated with McCune Albright syndrome or Carney complex, with respective mutations in TP53, GNAS, and PRKAR1A genes (Tatsi & Stratakis, 2018).…”

Section: Introductionmentioning

confidence: 99%

Pediatric Cushing syndrome: An early sign of an underling cancer predisposition syndrome

Schweiger

Esakhan

Frishberg

et al. 2021

American J of Med Genetics Pt A

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Beckwith-Wiedemann syndrome (BWS) is a genetic overgrowth and cancer predisposition syndrome that can be associated with a spectrum of clinical features including isolated lateralized overgrowth, macrosomia, macroglossia, organomegaly, omphalocele/umbilical hernia, and distinct facial features. Because of a range of clinical presentations and molecular defects involving Chromosome 11p15, many cases will fall within what is now being defined as the Beckwith-Wiedemann spectrum (BWSp). Cushing syndrome (CS) in infants is a rare neuroendocrinological disease associated with hypercortisolism that has rarely been reported in patients with BWS.Here, we describe the first case of a 5-month-old male with CS secondary to paternal uniparental disomy of Chromosome 11p without additional clinical signs or symptoms of BWS. This case continues to expand the phenotypic spectrum of BWSp.

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Neonatal Cushing Syndrome

Cited by 27 publications

References 82 publications

The Clinical Spectrum of McCune-Albright Syndrome and Its Management

The Clinical Spectrum of McCune-Albright Syndrome and Its Management

The Genetics of Pituitary Adenomas

Pediatric Cushing syndrome: An early sign of an underling cancer predisposition syndrome

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