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Pituitary stalk interruption syndrome in 58 C hinese patients: clinical features and genetic analysis
Author(s) -
Yang Yan,
Guo Qinghua,
Wang Baoan,
Dou Jingtao,
Lv Zhaohui,
Ba Jianming,
Lu Juming,
Pan Changyu,
Mu Yiming
Publication year - 2013
Publication title -
clinical endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.055
H-Index - 147
eISSN - 1365-2265
pISSN - 0300-0664
DOI - 10.1111/cen.12116
Subject(s) - anterior pituitary , pituitary stalk , medicine , pathogenesis , abnormality , endocrinology , hypoplasia , pituitary gland , biology , hormone , gastroenterology , psychiatry
Summary Objectives Pituitary stalk interruption syndrome ( PSIS ) is rare and its clinical features and pathogenesis are poorly understood. This study characterized the clinical and genetic features of PSIS in Chinese patients. Design and patients Clinical data of 58 patients with PSIS and 46 patients with GH deficiency but a normal pituitary stalk ( NPS ) were retrospectively analysed. HESX 1 , LHX 4 , OTX 2 and SOX 3 polymorphisms were screened in 33 PSIS patients, and GH 1 and GHRHR in 4 NPS patients. Results Deficiency of GH was 100% in both PSIS and NPS groups. Other deficiency rates for PSIS and NPS groups were as follows: ACTH , 77·6% and 23·9%; TSH , 43·1% and 10·9%; LH / FSH , 94·2% and 47·4%; and combined pituitary hormone, 93·1% and 41·3% respectively. In PSIS and NPS patients, the percentages of anterior pituitary hypoplasia were 98·3% and 54·3%, pituitary stalk abnormality were 100% and 0%, and ectopic neurohypophysis were 91·4% and 0%. A novel heterozygous sequence variant (c.142A>T, p.T48S) was found in HESX 1 in one PSIS patient, 3 polymorphisms (c.63T>C, p.G21G; c.450C>T, p.N150N; and c.983A>G, p.N328S) in LHX 4 in 7, 1 and 31 PSIS patients, respectively, and a hemizygous polymorphism (c.157G>C, p.V53L) in SOX 3 in one PSIS patient. No OTX 2 abnormality was detected in PSIS patients, and no GH 1 or GHRHR polymorphisms in NPS patients. Conclusions Compared with NPS , PSIS patients had more severe anterior pituitary hormone deficiency, lower anterior pituitary hormone secretion and higher probability of abnormal pituitary morphology. HESX 1 , LHX 4 and SOX 3 polymorphisms may be associated with PSIS .