Familial isolated parathyroid adenoma in a consanguineous family

The 23-year-old Caucasian male propositus presented with symptomatic hypercalcemia, hypophosphatemia and normocalciuria for 2 months. His 29-year-old brother had undergone an operation for recurrent parathyroid adenoma at age 26 and 28. No other member of the family was affected. His father and moth...

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Bibliographic Details
Published in:	Journal of endocrinological investigation Vol. 24; no. 5; pp. 349 - 355
Main Authors:	BERQWITZ, C, BREMER, B, SOUDAH, B, MAYR, B, BRABANT, G
Format:	Journal Article
Language:	English
Published:	Milano Kurtis 01-05-2001
Subjects:	Adenoma - diagnosis Adenoma - genetics Adenoma - surgery Adult Biological and medical sciences Calcium - urine Consanguinity Endocrinopathies Humans Hypercalcemia Hyperparathyroidism - genetics Hyperparathyroidism - pathology Hypophosphatemia Male Medical sciences Multiple Endocrine Neoplasia Type 1 Multiple Endocrine Neoplasia Type 2a Non tumoral diseases. Target tissue resistance. Benign neoplasms Parathyroid Glands - pathology Parathyroid Neoplasms - diagnosis Parathyroid Neoplasms - genetics Parathyroid Neoplasms - surgery Parathyroidectomy Parathyroids. Parafollicular cells. Cholecalciferol. Phosphocalcic homeostasis (diseases) Pedigree Technetium Tc 99m Sestamibi Ultrasonography Endocrinopathy Human Male Adenoma Genetic determinism Case study Family story Parathyroid diseases Etiology Adult Parathyroid glands Consanguinity Benign neoplasm Hyperparathyroidism
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Summary:	The 23-year-old Caucasian male propositus presented with symptomatic hypercalcemia, hypophosphatemia and normocalciuria for 2 months. His 29-year-old brother had undergone an operation for recurrent parathyroid adenoma at age 26 and 28. No other member of the family was affected. His father and mother were second-degree relatives. Laboratory studies showed primary hyperparathyroidism (pHPT), while the remaining endocrine studies and genetic testing for multiple endocrine neoplasia 1 and 2A were normal. Technetium-cardiolite scintigraphy and ultrasound scans revealed a parathyroid mass at the left lower neck. Apart from bilateral hearing loss due to gentamicin treatment as a pre-term child, the patient was in of good health. Signs or symptoms of other endocrinopathies were absent. The patient was referred for parathyroidectomy with subsequent autotransplantation of the remaining glands into his sternocleidomastoid muscle. Histological examination revealed an adenoma with oncocytic differentiation, similar to that seen in his brother. The disease may follow a recessive mode of inheritance or may be due to a dominant germ-cell mutation in one of the parents. The presented case may ultimately help in elucidating the molecular genetic basis of this rare form of pHPT.
Bibliography:	ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	0391-4097 1720-8386
DOI:	10.1007/BF03343872