Sparse hair and multiple endocrine disorders in two women heterozygous for adrenoleukodystrophy

Dumić, Miro; Gubarev, Nikola; Šikić, Nada; Roscher, Adelbert; Plavšić, Vesna; Filipović-Grčić, Boris

doi:10.1002/ajmg.1320430515

Pregled bibliografske jedinice broj: 184074

Sparse hair and multiple endocrine disorders in two women heterozygous for adrenoleukodystrophy

Dumić, Miro; Gubarev, Nikola; Šikić, Nada; Roscher, Adelbert; Plavšić, Vesna; Filipović-Grčić, Boris

Sparse hair and multiple endocrine disorders in two women heterozygous for adrenoleukodystrophy // American journal of medical genetics, 43 (1992), 5; 829-832 doi:10.1002/ajmg.1320430515 (međunarodna recenzija, članak, znanstveni)

CROSBI ID: 184074 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Sparse hair and multiple endocrine disorders in two women heterozygous for adrenoleukodystrophy

Autori
Dumić, Miro ; Gubarev, Nikola ; Šikić, Nada ; Roscher, Adelbert ; Plavšić, Vesna ; Filipović-Grčić, Boris

Izvornik
American journal of medical genetics (0148-7299) 43 (1992), 5; 829-832

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
adrenoleukodystrophy ; metabolic diseases ; genetic disease ; nervous system diseases ; lipids ; female ; human ; family study ; hair (head) ; skin disease ; endocrinopathy ; heterozygozity ; thyroid diseases ; addison disease

Sažetak
We describe two sisters (40 and 42 years old) heterozygous for adrenoleukodystrophy who have multiple endocrine disorders. In addition to the characteristic neurological symptoms, the younger patient has Addison disease and primary hypothyroidism attributable to autoimmune thyroiditis, and the older one has Graves disease. Both patients have loss of body hair and sparse scalp hair, which have not been reported previously in women heterozygous for adrenoleukodystrophy

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA

Ustanove:
Klinika za dječje bolesti

Profili:

Miroslav Dumić (autor)