1.A Case of McCune-Albright Syndrome with Associated Multiple Endocrinopathies.
Sang Hun SUNG ; Hyun Dae YOON ; Ho Sang SHON ; Hong Tae KIM ; Woo Young CHOI ; Chang Jin SEO ; Joo Hyoung LEE
The Korean Journal of Internal Medicine 2007;22(1):45-50
McCune-Albright syndrome (MAS) is a rare disorder that develops from an activating mutation in the Gs gene. It is characterized by an association with Polyostotic fibrous dysplasia, and precocious puberty, Caf-au-lait pigmentation, and other endocrinopathies that result from the hyperactivity of a variety of endocrine glands. Recently we encountered a patient with MAS with fibrous dysplasia, skin pigmentation, acromegaly, hyperprolactinemia and a thyroid nodule. A 23-year-old male presented for an evaluation of a change in his facial structures. Fibrous dysplasia was diagnosed by a bone biopsy and radiographic studies. The GH level increased paradoxically after an oral glucose load. The plasma prolactin, IGF-1 and alkaline phosphatase were high. Thyroid ultrasonography revealed multiple nodules. The brain MRI demonstrated a mass in the left pituitary gland. Genetic analysis identified a change from Arg (CGT) at codon 201 to Cys (TGT).
Thyroid Diseases/etiology/genetics
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Puberty, Precocious/etiology/genetics
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Mutation
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Male
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Hyperprolactinemia/etiology/genetics
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Humans
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GTP-Binding Protein alpha Subunits, Gs/*genetics
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Fibrous Dysplasia, Polyostotic/*diagnosis/genetics/pathology
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Cafe-au-Lait Spots/etiology/genetics
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Adult
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Acromegaly/*diagnosis/etiology
2.Klinefelter syndrome complicated by mediastinal teratomas and precocious puberty: a case report.
Hong-hong ZHANG ; Ji-hua CUI ; Jian-qin QI ; Mei-rui LI ; Jian-min WU ; Yu LING
Chinese Journal of Pediatrics 2013;51(8):630-630
Biomarkers
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blood
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Child
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Chorionic Gonadotropin
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blood
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Follicle Stimulating Hormone
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blood
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Growth Disorders
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etiology
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Humans
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Klinefelter Syndrome
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complications
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diagnosis
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genetics
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Magnetic Resonance Imaging
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Male
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Mediastinal Neoplasms
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complications
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diagnosis
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surgery
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Puberty, Precocious
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diagnosis
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etiology
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Teratoma
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complications
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diagnosis
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surgery
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Testis
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pathology