Endocrine studies in Fanconi's anaemia. Report of 4 cases.
- 1 February 1978
- journal article
- case report
- Published by BMJ in Archives of Disease in Childhood
- Vol. 53 (2), 126-131
- https://doi.org/10.1136/adc.53.2.126
Abstract
Four boys with Fanconi's anaemia and growth hormone (GH) deficiency are reported. Case 1 had isolated GH deficiency and responded to HGH and to oxandrolone treatment. Case 2, his brother, had milder haematological and dysmorphic manifestations and maintained a low-normal growth rate without treatment in spite of laboratory evidence of GH deficiency. Case 3 had multiple hypothalamopituitary defects, including deficiencies of GH, ACTH, and gonadotrophins. Case 4 had isolated GH deficiency and responded moderately well to HGH treatment. 3 of the 4 patients had bilateral cryptorchidism, 2 with increased plasma gonadotrophins, indicating primary testicular failure. We conclude that GH deficiency, isolated or combined with other hypothalamopituitary defects, and primary testicular failure with cryptorchidism are frequent but not constant features of Fanconi's anaemia.Keywords
This publication has 22 references indexed in Scilit:
- FANCONI'S ANEMIA II.Acta Paediatrica, 1975
- Growth hormone deficiency and Fanconi anemiaThe Journal of Pediatrics, 1975
- Fanconi's aplastic anaemia with short stature. Absence of response to human growth hormone.Archives of Disease in Childhood, 1975
- ANDROGEN-INDUCED HEPATOMAThe Lancet, 1975
- Fanconi's anemia with isolated growth hormone deficiencyThe Journal of Pediatrics, 1972
- Fanconi's anemia with growth hormone deficiencyThe Journal of Pediatrics, 1971
- Fanconi's Anaemia with Hydrocephalus and Thyroid AbnormalityArchives of Disease in Childhood, 1965
- Preparation of human growth hormone by gel filtrationBiochimica et Biophysica Acta, 1963
- Chronic Pancytopenia with Multiple Congenital Abnormalities (Fanconi's Anaemia)Acta Paediatrica, 1960
- RADIOGRAPHIC ATLAS OF SKELETAL DEVELOPMENT OF THE HAND AND WRISTThe American Journal of the Medical Sciences, 1959