Hyperplasia of parathyroid gland in a five-year old childaffected by MEN 2A
2006
Primary hyperparathyroidism (HPT) is observed in 20-30% of
patients with multiple endocrine neoplasia type 2A (MEN 2A).
The age of diagnosis ranges from seven to seventy one year
old (with median of thirty eight years) in patients affected by HPT in MEN 2A. We diagnosed primary HPT in a 5 year old boy carrier of RET gene mutation associated with MEN 2A,submitted to prophylactic total thyroidectomy (TT).
The RET mutated gene carriers are submitted to prophylactic
TT at different ages. Recent studies demonstrated that based
on the type of RET gene mutation the timing of TT varies, as
the transforming potential of RET-mutations are codon-dependentwith significant correlations between genotype and clinical phenotype in MEN 2A patients. In particular, the medullary
thyroid carcinoma (MTC) occurs earlier in the patients with
codon 634 mutations than in those with other mutations, and
these patients have also a higher frequency of pheochromocytoma
and hyperparathyroidism.
This genotype-phenotype correlation is confirmed in the patient
described in this report, who was carrier of a germline
mutation in the 634 codon (Cys→Trp) and showed early expression
of MTC and parathyroid pathology. The young age of
this patient represents an exception, as other Authors report
the absence of parathyroid pathology in children or in adolescents
submitted to prophylactic TT.
The patient underwent a partial parathyroidectomy in agreement
with the preferred surgical treatment of HPT in MEN 2A,
which consists in removing only the parathyroid(s) with increased
volume. Indeed, the experiences with subtotal or total
parathyroidectomy associated to autograft are very limited,
with results supporting lack of major differences and, therefore,
suggesting a more conservative surgical approach
HPT in MEN 2A. We diagnosed primary HPT in a 5 year old
boy carrier of RET gene mutation associated with MEN 2A,
submitted to prophylactic total thyroidectomy (TT).
The RET mutated gene carriers are submitted to prophylactic
TT at different ages. Recent studies demonstrated that based
on the type of RET gene mutation the timing of TT varies, as
the transforming potential of RET-mutations are codon-dependent
with significant correlations between genotype and clinical
phenotype in MEN 2A patients. In particular, the medullary
thyroid carcinoma (MTC) occurs earlier in the patients with
codon 634 mutations than in those with other mutations, and
these patients have also a higher frequency of pheochromocytoma
and hyperparathyroidism.
This genotype-phenotype correlation is confirmed in the patient
described in this report, who was carrier of a germline
mutation in the 634 codon (Cys→Trp) and showed early expression
of MTC and parathyroid pathology. The young age of
this patient represents an exception, as other Authors report
the absence of parathyroid pathology in children or in adolescents
submitted to prophylactic TT.
The patient underwent a partial parathyroidectomy in agreement
with the preferred surgical treatment of HPT in MEN 2A,
which consists in removing only the parathyroid(s) with increased
volume. Indeed, the experiences with subtotal or total
parathyroidectomy associated to autograft are very limited,
with results supporting lack of major differences and, therefore,
suggesting a more conservative surgical approach
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