Fanconi's anemia with growth hormone deficiency. 1979

U Z Nordan, and J R Humbert, and M H MacGillivray, and J E Fitzpatrick

The association of Fanconi's anemia (FA) and growth hormone (-gh) deficiency is not commonly reported. These children may have the typical features of the FA syndrome, or may exhibit much variability in clinical and hematological findings. In a single family, members may have FA with or without GH deficiency. The genetic basis for this heterogeneity is unknown. We describe here two siblings with FA, one of whom had dwarfism due to GH deficiency. Combined treatment with GH and androgen (oxymetholone) resulted in strikingly greater acceleration of growth than did the use of GH alone. Pancytopenia was not influenced by hormone therapy.

UI MeSH Term Description Entries
D008297 Male Males
D010110 Oxymetholone A synthetic hormone with anabolic and androgenic properties. It is used mainly in the treatment of anemias. According to the Fourth Annual Report on Carcinogens (NTP 85-002), this compound may reasonably be anticipated to be a carcinogen. (From Merck Index, 11th ed) Hydroxymetholone,Anadrol,Anapolon 50,Oxymethalone,Oxymetholone, (17 beta)-Isomer,Oxymetholone, (5 alpha,17 alpha)-Isomer
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D004392 Dwarfism A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height. Nanism
D005199 Fanconi Anemia Congenital disorder affecting all bone marrow elements, resulting in ANEMIA; LEUKOPENIA; and THROMBOPENIA, and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes. Spontaneous CHROMOSOME BREAKAGE is a feature of this disease along with predisposition to LEUKEMIA. There are at least 7 complementation groups in Fanconi anemia: FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, and FANCL. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id Anemia, Fanconi,Fanconi Hypoplastic Anemia,Fanconi Pancytopenia,Fanconi Panmyelopathy,Fanconi's Anemia,Anemia, Fanconi's,Anemias, Fanconi,Fanconi Anemias
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000741 Anemia, Aplastic A form of anemia in which the bone marrow fails to produce adequate numbers of peripheral blood elements. Anemia, Hypoplastic,Aplastic Anaemia,Aplastic Anemia,Anaemia, Aplastic,Aplastic Anaemias,Aplastic Anemias,Hypoplastic Anemia,Hypoplastic Anemias
D013006 Growth Hormone A polypeptide that is secreted by the adenohypophysis (PITUITARY GLAND, ANTERIOR). Growth hormone, also known as somatotropin, stimulates mitosis, cell differentiation and cell growth. Species-specific growth hormones have been synthesized. Growth Hormone, Recombinant,Pituitary Growth Hormone,Recombinant Growth Hormone,Somatotropin,Somatotropin, Recombinant,Growth Hormone, Pituitary,Growth Hormones Pituitary, Recombinant,Pituitary Growth Hormones, Recombinant,Recombinant Growth Hormones,Recombinant Pituitary Growth Hormones,Recombinant Somatotropins,Somatotropins, Recombinant,Growth Hormones, Recombinant,Recombinant Somatotropin

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