PMID- 21915802
OWN - NLM
STAT- MEDLINE
DCOM- 20150522
LR  - 20110914
IS  - 1439-4413 (Electronic)
IS  - 0012-0472 (Linking)
VI  - 136
IP  - 38
DP  - 2011 Sep
TI  - [Hereditary variants of primary hyperparathyroidism--MEN1, MEN2, HPT-JT, FHH, 
      FIHPT].
PG  - 1889-94
LID - 10.1055/s-0031-1286358 [doi]
AB  - OBJECTIVE: The challenge in diagnosing primary hyperparathyroidism (HPT) is to 
      detect hereditary cases before first surgery. About 5% of cases are hereditary 
      and integral component of multiple endocrine neoplasia type 1 and 2 (MEN1/MEN2), 
      hyperparathyroidism-jaw tumor syndrome (HPT-JT), familial hypocalciuric 
      hypercalcemia (FHH), and familial isolated hyperparathyroidism (FIHPT). Aim of 
      this study was to evaluate similarities and differences in hereditary varieties 
      of HPT. PATIENTS: 80 patients with hereditary HPT were evaluated in a 
      retrospective analysis between 1980 and 2010 concerning clinical findings, family 
      history, therapy, biochemical and molecular-genetic findings and follow-up. 
      RESULTS: 80 patients with hereditary HPT are described, 52 belonged to MEN1, 15 
      to MEN2, 7 to HPT-JT, 4 to FHH and 2 to FIHPT kindreds. Penetrance of HPT was 
      highest in MEN1 (85%), followed by HPT-JT (64%), FHH (28.5%), and MEN2 (8%). 
      Youngest age at diagnosis of HPT was 7 and 16 years in the MEN2/HPT-JT group. 
      Serum Calcium was highest in the HPT-JT group (3.6 mM), recurrencies of HPT were 
      highest in the MEN1 group (40.5%). Parathyroid cancer solely occurred in the 
      HPT-JT group. In single cases HPT occurs in FHH. CONCLUSION: Among the different 
      varieties of hereditary HPT MEN1-HPT is most frequent and carries the utmost 
      recurrence rate. Early diagnosis of HPT-JT syndrome is important because of the 
      occurrence of parathyroid cancer. Single cases of HPT in FHH are described. 
      Preoperative diagnosis of hereditary HPT has therapeutic consequences concerning 
      extent of surgery and implications concerning patient and family care.
CI  - (c) Georg Thieme Verlag KG Stuttgart . New York.
FAU - Frank-Raue, K
AU  - Frank-Raue K
AD  - Endokrinologische Gemeinschaftspraxis und molekulargenetisches Labor, Heidelberg. 
      karin.frankraue@raue-endokrinologie.de
FAU - Leidig-Bruckner, G
AU  - Leidig-Bruckner G
FAU - Lorenz, A
AU  - Lorenz A
FAU - Rondot, S
AU  - Rondot S
FAU - Haag, C
AU  - Haag C
FAU - Schulze, E
AU  - Schulze E
FAU - Buchler, M
AU  - Buchler M
FAU - Raue, F
AU  - Raue F
LA  - ger
PT  - English Abstract
PT  - Journal Article
TT  - Hereditare Formen des primaren Hyperparathyreoidismus. MEN1, MEN2, HPT-JT, FHH, 
      FIHPT.
DEP - 20110913
PL  - Germany
TA  - Dtsch Med Wochenschr
JT  - Deutsche medizinische Wochenschrift (1946)
JID - 0006723
RN  - SY7Q814VUP (Calcium)
RN  - Hypocalciuric hypercalcemia, familial, type 1
SB  - IM
MH  - Adenoma/diagnosis/genetics
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Calcium/blood
MH  - Child, Preschool
MH  - Cytogenetic Analysis
MH  - DNA Mutational Analysis
MH  - Early Diagnosis
MH  - Female
MH  - Follow-Up Studies
MH  - Genetic Testing
MH  - Humans
MH  - Hypercalcemia/*congenital/diagnosis/genetics
MH  - Hyperparathyroidism, Primary/diagnosis/*genetics
MH  - Jaw Neoplasms/diagnosis/*genetics
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/diagnosis/*genetics
MH  - Multiple Endocrine Neoplasia Type 2a/diagnosis/*genetics
MH  - Parathyroid Neoplasms/diagnosis/genetics
MH  - Penetrance
MH  - Recurrence
MH  - Retrospective Studies
MH  - Syndrome
MH  - Young Adult
EDAT- 2011/09/15 06:00
MHDA- 2015/05/23 06:00
CRDT- 2011/09/15 06:00
PHST- 2011/09/15 06:00 [entrez]
PHST- 2011/09/15 06:00 [pubmed]
PHST- 2015/05/23 06:00 [medline]
AID - 10.1055/s-0031-1286358 [doi]
PST - ppublish
SO  - Dtsch Med Wochenschr. 2011 Sep;136(38):1889-94. doi: 10.1055/s-0031-1286358. Epub 
      2011 Sep 13.