PMID- 22673601 OWN - NLM STAT- MEDLINE DCOM- 20130301 LR - 20190907 IS - 1348-4540 (Electronic) IS - 0918-8959 (Linking) VI - 59 IP - 9 DP - 2012 TI - Delay in the diagnosis of multiple endocrine neoplasia type 1: typical symptoms are frequently overlooked. PG - 797-807 AB - The morbidity and mortality of individuals with multiple endocrine neoplasia type 1 (MEN1) can be reduced by early diagnosis of MEN1 and related endocrine tumors. To find factors contributing to early diagnosis, we collected clinical information on MEN1 patients through a MEN study group, "MEN Consortium of Japan" and analyzed the time of initial symptom-dependent detection of parathyroid tumors, gastro-entero-pancreatic neuroendocrine tumors (GEPNETs) and pituitary tumors, and that of tumor detection-dependent MEN1 diagnosis in 560 patients. Main tumors were identified up to 7.0 years after symptoms appeared and there was no difference in age at the diagnosis of GEPNETs alone between probands and family members. In patients with typical symptoms (peptic ulcers, urolithiasis, fasting hypoglycemia, bone fracture/loss and amenorrhea), the mean interval between symptom manifestation and tumor detection was extended up to 9.6 years. In particular, 21.7% (5/23) of patients with amenorrhea were diagnosed with pituitary tumors in under one year. In patients with peptic ulcers (from parathyroid tumors or GEPNETs) and urolithiasis (from parathyroid tumors), the interval was positively correlated with age at tumor detection. The interval between tumor detection and MEN1 diagnosis was also prolonged to approximately four years in patients with fasting hypoglycemia (from GEPNETs) and amenorrhea. A substantial delay in the diagnosis of symptom-related tumors and subsequent MEN1 and inadequate screening of GEPNETs in family members were indicated. A greater understanding of MEN1 may assist medical practitioners to make earlier diagnoses, to share patients' medical information and to give family members sufficient disease information. FAU - Yamazaki, Masanori AU - Yamazaki M AD - Division of Diabetes, Endocrinology and Metabolism, Department of Internal Medicine, Shinshu University School of Medicine, Matsumoto 390-8621, Japan. FAU - Suzuki, Shin-ichi AU - Suzuki S FAU - Kosugi, Shinji AU - Kosugi S FAU - Okamoto, Takahiro AU - Okamoto T FAU - Uchino, Shinya AU - Uchino S FAU - Miya, Akihiro AU - Miya A FAU - Imai, Tsuneo AU - Imai T FAU - Kaji, Hiroshi AU - Kaji H FAU - Komoto, Izumi AU - Komoto I FAU - Miura, Daishu AU - Miura D FAU - Yamada, Masanobu AU - Yamada M FAU - Uruno, Takashi AU - Uruno T FAU - Horiuchi, Kiyomi AU - Horiuchi K FAU - Sato, Ai AU - Sato A FAU - Miyauchi, Akira AU - Miyauchi A FAU - Imamura, Masayuki AU - Imamura M FAU - Sakurai, Akihiro AU - Sakurai A CN - MEN Consortium of Japan LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20120603 PL - Japan TA - Endocr J JT - Endocrine journal JID - 9313485 SB - IM MH - Age of Onset MH - Amenorrhea/etiology MH - Databases, Factual MH - *Delayed Diagnosis/prevention & control MH - Family Health MH - Female MH - Humans MH - Hypoglycemia/etiology MH - Japan/epidemiology MH - Male MH - Multiple Endocrine Neoplasia Type 1/*diagnosis/epidemiology/*physiopathology MH - Osteoporotic Fractures/etiology MH - Peptic Ulcer/etiology MH - Urolithiasis/etiology FIR - Fukushima, Toshihiko IR - Fukushima T FIR - Hanazaki, Kazuhiro IR - Hanazaki K FIR - Hirakawa, Shohei IR - Hirakawa S FIR - Igarashi, Takehito IR - Igarashi T FIR - Iwatani, Tsuguo IR - Iwatani T FIR - Kammori, Makoto IR - Kammori M FIR - Katabami, Takuyuki IR - Katabami T FIR - Katai, Miyuki IR - Katai M FIR - Kikumori, Toyone IR - Kikumori T FIR - Kiribayashi, Kazuyo IR - Kiribayashi K FIR - Shigeki, Koizumi IR - Shigeki K FIR - Midorikawa, Sanae IR - Midorikawa S FIR - Miyabe, Rika IR - Miyabe R FIR - Munekage, Takuya IR - Munekage T FIR - Ozawa, Atsushi IR - Ozawa A FIR - Shimizu, Kazuo IR - Shimizu K FIR - Sugitani, Iwao IR - Sugitani I FIR - Takeyama, Hiroshi IR - Takeyama H EDAT- 2012/06/08 06:00 MHDA- 2013/03/02 06:00 CRDT- 2012/06/08 06:00 PHST- 2012/06/08 06:00 [entrez] PHST- 2012/06/08 06:00 [pubmed] PHST- 2013/03/02 06:00 [medline] AID - DN/JST.JSTAGE/endocrj/EJ12-0071 [pii] AID - 10.1507/endocrj.ej12-0071 [doi] PST - ppublish SO - Endocr J. 2012;59(9):797-807. doi: 10.1507/endocrj.ej12-0071. Epub 2012 Jun 3.