Primary hypogonadism in the Borjeson-Forssman-Lehmann syndrome.
Open Access
- 1 February 1978
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 15 (1) , 63-66
- https://doi.org/10.1136/jmg.15.1.63
Abstract
A 28-year-old man with mental retardation and multiple congenital malformations was found to have the classical features of Borjeson-Forssman-Lehmann syndrome. Endocrine evaluations showed primary hypogonadism as the underlying endocrine abnormality rather than hypopituitarism as suggested in earlier reports.This publication has 12 references indexed in Scilit:
- AN INHERITED SYNDROME WITH MENTAL DEFICIENCY AND ENDOCRINE DISORDER. A PATHO-ANATOMICAL STUDY*Journal of Intellectual Disability Research, 2008
- Fetal proteinuria in diagnosis of congenital nephrosis detected by raised alpha-fetoprotein in maternal serum.BMJ, 1977
- The Response of Pituitary Gonadotropes to a Constant Infusion of Luteinizing Hormone-Releasing Hormone (LHRH) in Normal Prepubertal and Pubertal Children and in Children with Abnormalities of Sexual DevelopmentJournal of Clinical Endocrinology & Metabolism, 1976
- α-Fetoprotein and the Prenatal Diagnosis of Central Nervous System DisordersPediatric Neurosurgery, 1976
- ELEVATED AMNIOTIC-FLUID ALPHA-FETOPROTEIN AND DUODENAL ATRESIAThe Lancet, 1975
- ALPHA-FETOPROTEIN IN ANTENATAL DIAGNOSIS OF CONGENITAL NEPHROSISThe Lancet, 1975
- ELEVATED AMNIOTIC ALPHA‐FETOPROTEIN IN CONGENITAL OESOPHAGEAL ATRESIABJOG: An International Journal of Obstetrics and Gynaecology, 1974
- Metacarpophalangeal Pattern Profiles in the Evaluation of Skeletal MalformationsRadiology, 1972
- THE BÖRJESON‐FORSSMAN‐LEHMANN SYNDROMEJournal of Intellectual Disability Research, 1965
- An X‐linked, Recessively Inherited Syndrome Characterized by Grave Mental Deficiency, Epilepsy, and Endocrine DisorderActa Medica Scandinavica, 1962