Partial empty sella syndrome, GH deficiency and transient central adrenal insufficiency in a patient with NF1.

Endocrine
Eleni Magdalini KyritsiChristina Kanaka-Gantenbein

Abstract

To describe the case of a 9-year-old male patient with neurofibromatosis type 1 (NF1), partial empty sella (PES), transient central adrenal insufficiency (CAI) and growth hormone (GH) deficiency (GHD) treated with recombinant GH (rGH). The diagnosis of GHD was established upon peak GH response <10 ng/mL following glucagon and clonidine stimulation tests. CAI was diagnosed when peak cortisol response was <18 μg/dL following 1 μg Synacthen test (ST) with normal ACTH levels. The diagnosis of NF1 was made at the age of 1.5 year. The patient first attended our Department at the age of 4.5 years. He presented with short stature (height: 95 cm < 3rd percentile), macrocephaly, frontal bossing, café-au-lait spots and bilateral proptosis. His growth rate (GR) initially was 5.3 cm/year. Brain/pituitary MRI showed T2-hyperintensities typical for NF1 and PES with reduced pituitary gland height (3 mm). The pituitary function tests revealed GHD. During follow-up his imaging findings remained unchanged, while his GR decelerated. He was started on rGH at the age of 8.5 years. Within the following year he grew 8.7 cm in height and could preserve a normal GR thereafter. At the age of 10.3 years, he was diagnosed with CAI (maximum cortisol respons...Continue Reading

References

Sep 1, 1979·Clinical Radiology·S K GuptaR Kesharwani
Feb 1, 1993·Journal of the Neurological Sciences·L De PaepeJ J Martin
Oct 2, 1997·Pediatrics·M H CnossenS M de Muinck Keizer-Schrama
Aug 26, 1998·The Journal of Pediatrics·S J HowellS M Shalet
Dec 10, 1999·American Journal of Medical Genetics·M ClementiR Tenconi
Jul 29, 2000·Pediatric Neurology·R Vassilopoulou-SellinJ K Slopis
Jan 11, 2000·Journal of Medical Genetics·J SzudekJ M Friedman
Aug 1, 1963·The British Journal of Radiology·E H BURROWS
Nov 9, 2004·The Journal of Clinical Endocrinology and Metabolism·Claudia GiavoliPaolo Beck-Peccoz
Jun 24, 2005·The Journal of Clinical Endocrinology and Metabolism·Laura De MarinisAndrea Giustina
Nov 16, 2006·Journal of Medical Genetics·Rosalie E FernerAmanda Kirby
Feb 26, 2008·Clinics·Karin Soares Gonçalves CunhaEliene Carvalho da Fonseca
Jul 11, 2008·Human Molecular Genetics·Balazs HegedusDavid H Gutmann
Jan 2, 2009·Pediatrics·Virginia C WilliamsBernard L Maria
Feb 5, 2009·Journal of Pediatric Endocrinology & Metabolism : JPEM·T MushtaqN P Wright
Oct 3, 2009·European Journal of Endocrinology·Matthew WadeLynnette Nieman
Mar 9, 2010·Journal of Endocrinological Investigation·A GiustinaE degli Uberti
Jul 4, 2012·Journal of Child Neurology·Elizabeth A SoucyAbby S Hollander
Aug 13, 2013·Handbook of Clinical Neurology·Rosalie E Ferner, David H Gutmann
Dec 11, 2013·The Journal of Pediatrics·Urania DagalakisBrigitte C Widemann
Jul 16, 2014·Oncotarget·Yoon-Sim YapDavid F Callen
Jul 18, 2014·Lancet Neurology·Angela C Hirbe, David H Gutmann
Feb 11, 2015·Hormone Research in Pædiatrics·Carla Bizzarri, Giorgia Bottaro
Oct 2, 2015·Endocrine, Metabolic & Immune Disorders Drug Targets·Vincenzo TriggianiEdoardo Guastamacchia
Oct 18, 2016·Current Opinion in Ophthalmology·Aubrey L Gilbert, Gena Heidary
Mar 28, 2017·Hormone Research in Pædiatrics·Ilaria Sani, Assunta Albanese
Aug 7, 2017·European Journal of Endocrinology·S ChiloiroL De Marinis
Jun 15, 2019·Journal of Clinical Medicine·Laura Maria MongioìAldo Eugenio Calogero

❮ Previous
Next ❯

Citations

Feb 13, 2021·Frontiers in Endocrinology·Mengqi ChangRenzhi Wang

❮ 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.