PMID- 16793949
OWN - NLM
STAT- MEDLINE
DCOM- 20060823
LR  - 20161018
IS  - 0804-4643 (Print)
IS  - 0804-4643 (Linking)
VI  - 155
IP  - 1
DP  - 2006 Jul
TI  - The spectrum of parathyroid gland dysfunction associated with the microdeletion 
      22q11.
PG  - 47-52
AB  - OBJECTIVE: Clinical features associated with microdeletion of chromosome 22q11 
      (del(22)(q11)) are highly variable. Increased awareness of this condition is 
      needed among specialists such as endocrinologists to reduce diagnostic delay and 
      improve clinical care. The purpose of this study was to describe the phenotype of 
      patients with del(22)(q11), focusing on parathyroid gland dysfunction. DESIGN AND 
      METHODS: Charts of 19 patients, including one kindred of three, known to have 
      del(22)(q11) diagnosed by fluorescence in situ hybridization (FISH) were reviewed 
      from the register of the department of Medical Genetics. Major clinical features 
      including hypoparathyroidism phenotype were collected. RESULTS: Parathyroid 
      dysfunction was present in 8 out of 16 patients (50%). Six patients were 
      diagnosed with overt hypoparathyroidism. Hypocalcemia manifested as laryngeal 
      stridor within the first days of life (n = 3), seizures in infancy (n = 1) and 
      adolescence (n = 2). The connection between hypoparathyroidism and diagnosis of 
      del(22)(q11) was belated at the median age of 18 years. One patient had presented 
      with transient neonatal hypoparathyroidism, and one patient had latent 
      hypoparathyroidism. Within the kindred family, the phenotype variability 
      including that of parathyroid dysfunction was as marked as between unrelated 
      individuals. Standard karyotype failed to detect the deletion in 15 out of 19 
      cases. CONCLUSIONS: Abnormal parathyroid function in the del(22)(q11) ranges from 
      severe neonatal hypocalcemia to latent hypoparathyroidism. Del(22)(q11) should be 
      considered as a potential cause of hypocalcemia even in young adult. When 
      suspected, the diagnosis requires investigation by FISH. Furthermore, long-term 
      calcemia follow-up is needed in normocalcemic patients with del(22)(q11) because 
      of the possible evolution to hypocalcemic hypoparathyroidism.
FAU - Hieronimus, Sylvie
AU  - Hieronimus S
AD  - Department of Endocrinology and Reproductive Medecine, Nice University Hospital, 
      BP 3079, 06202 Nice cedex 3, France. hieronimus.s@chu-nice.fr
FAU - Bec-Roche, Magali
AU  - Bec-Roche M
FAU - Pedeutour, Florence
AU  - Pedeutour F
FAU - Lambert, Jean Claude
AU  - Lambert JC
FAU - Wagner-Malher, Kathy
AU  - Wagner-Malher K
FAU - Mas, Jean Christophe
AU  - Mas JC
FAU - Sadoul, Jean Louis
AU  - Sadoul JL
FAU - Fenichel, Patrick
AU  - Fenichel P
LA  - eng
PT  - Journal Article
PL  - England
TA  - Eur J Endocrinol
JT  - European journal of endocrinology
JID - 9423848
RN  - 0 (Parathyroid Hormone)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Chromosomes, Human, Pair 22/*genetics
MH  - Female
MH  - *Gene Deletion
MH  - Humans
MH  - Hypocalcemia/blood/etiology
MH  - Hypoparathyroidism/etiology/genetics
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Middle Aged
MH  - Parathyroid Diseases/blood/*genetics/physiopathology
MH  - Parathyroid Hormone/blood
MH  - Phenotype
MH  - Retrospective Studies
MH  - Seizures/etiology/genetics
EDAT- 2006/06/24 09:00
MHDA- 2006/08/24 09:00
CRDT- 2006/06/24 09:00
PHST- 2006/06/24 09:00 [pubmed]
PHST- 2006/08/24 09:00 [medline]
PHST- 2006/06/24 09:00 [entrez]
AID - 155/1/47 [pii]
AID - 10.1530/eje.1.02180 [doi]
PST - ppublish
SO  - Eur J Endocrinol. 2006 Jul;155(1):47-52. doi: 10.1530/eje.1.02180.