Autosomal recessive deficiency of combined pituitary hormones (except ACTH) in a consanguineous Brazilian kindred

Journal of Endocrinological Investigation
C R NogueiraG A Medeiros-Neto

Abstract

Familial hypopituitarism represents a clinically and genetically heterogeneous disorder. In a subset of these families, defects in Pit-I, a transcription factor essential for proper pituitary development have been identified as underlying molecular cause. These patients present extreme short stature, GH, PRL and TSH deficiency but intact ACTH, LH and FSH secretion. The pituitary is usually hypoplastic. In this report we describe a consanguineous family (the parents are first cousins) with thirteen siblings. Of the ten living siblings, four (two males and two females) have panhypopituitarism with severe growth failure. They had evidence of growth hormone, prolactin and gonadotropin deficiencies and developed central hypothyroidism late in life. ACTH secretion was normal. Bone age was retarded and dual-photon bone densitometry indicated severe osteoporosis. Combined provocative tests for pituitary hormones indicated blunted responses for GH, LH, FSH and a modest rise in serum PRL and TSH. A clonidine-test failed to induce pituitary GH response. A corticotropin-releasing factor (CRF) provocative test was conducted after 6 months without the use of prednisone with a normal ACTH response after CRF in the affected sibling. Plasma IGF...Continue Reading

References

May 1, 1979·Acta paediatrica Scandinavica·M Adler-BierS Moses
Mar 30, 1978·The New England Journal of Medicine·J S ParksR T Kirkland
Nov 1, 1985·American Journal of Medical Genetics·R G McArthurJ Klassen
Dec 1, 1973·The Journal of Clinical Endocrinology and Metabolism·G A Medeiros-NetoA V Schally
Jul 1, 1967·Scientific American·V A McKusick, D L Rimoin
Jul 1, 1995·Baillière's Clinical Endocrinology and Metabolism·K A WoodsA J Clark
Nov 1, 1995·The Journal of Clinical Endocrinology and Metabolism·F de ZegherJ A Martial
Feb 1, 1995·The Journal of Clinical Endocrinology and Metabolism·L E CohenS Radovick
Aug 1, 1994·The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society·M A JapónM J Low

❮ Previous
Next ❯

Citations

Apr 1, 2015·PloS One·Rodolfo JafféVera Lucia Imperatriz-Fonseca
Aug 14, 2012·Bulletin of Environmental Contamination and Toxicology·Clara Tavares LourençoRoberta Cornélio Ferreira Nocelli

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.