PubMed · 601637
The source did not provide an abstract. Follow the original record for more information.
Explore connections, maps & timelines
1977-10-22. Pituitary dwarfs.. https://pubmed.ncbi.nlm.nih.gov/601637/
Cite the original work for its findings. Save a collection to share your selection of sources.
KEEP EXPLORING
An unconscious woman of short stature (141 cm) was admitted to our hospital in March, 1994. She had hyponatremia (120 mEq/l) and had experienced massive bleeding during delivery. No increment of either plasma ACTH or cortisol levels was observed after insulin-induced hypoglycemia. However, urinary 17OHCS levels gradually increased after repeated intramuscular injections of ACTH. Plasma free T3 and free T4 levels were low. Neither plasma TSH nor prolactin (PRL) levels increased after an intravenous injection of TRH. Basal plasma LH, FSH and growth hormone (GH) levels were low and there were no observable responses to any of the stimulation tests. A magnetic resonance image (MRI) of her pituitary gland showed an empty sella. These results showed that she had a panhypopituitarism with primary empty sella. Replacement therapy with glucocorticoid was started and serum sodium levels normalized immediately. Levothyroxine was also administered. The possibility of pituitary dwarfism during her youth and a gradual postpartum reduction of other pituitary hormones may have caused an impairment of the hypothalamo-pituitary-adrenal axis.
Explore the source record for details and available documents.
A significant proportion of cases of GH deficiency (5-30%) may be due to genetic causes. At least four Mendelian types of isolated GH deficiency (IGHD) have been delineated based on the mode of inheritance and the degree of GH deficiency: IGHD type IA, autosomal recessive with absent endogenous GH; type IB, autosomal recessive with diminished GH; type II, autosomal dominant with diminished GH; and type III, X-linked with diminished GH. Most patients with IGHD type IA have heterogeneous deletions, ranging in size from 6.7 kb to 45 kb, that encompass the entire gene encoding for pituitary GH, GH-1. Nonsense, frameshift and splice GH-1 mutations that predict a complete lack of bioactive GH synthesis in homozygotes have also been reported in association with IGHD IA. Additionally, some cases of IGHD type II have dominant negative mutations in one allele of the GH-1 gene. Panhypopituitary Dwarfism (PD), a condition characterized by deficiency of at least other pituitary trophic hormone in addition to GH deficiency, can have autosomal and X-linked modes of inheritance. Interestingly, both recessive and dominant mutations at the gene encoding for the pituitary transcription factor Pit-1 have been found in a specific subtype of PD that combines GH, prolactin and TSH deficiencies. In contrast, the loci and mutations responsible for the other Mendelian forms of IGHD and PD remain unknown. Linkage studies using genetic markers have excluded the GH locus on chromosome 20 in all the studied families (types IB and II) in whom the mutation cannot be traced to defects in these genes.(ABSTRACT TRUNCATED AT 250 WORDS)