Diagnosis and Treatment > Medication
Search for other papers by Anna Popławska-Kita in
Google Scholar
PubMed
Search for other papers by Marta Wielogórska in
Google Scholar
PubMed
Search for other papers by Łukasz Poplawski in
Google Scholar
PubMed
Search for other papers by Katarzyna Siewko in
Google Scholar
PubMed
Search for other papers by Agnieszka Adamska in
Google Scholar
PubMed
Search for other papers by Piotr Szumowski in
Google Scholar
PubMed
Search for other papers by Piotr Myśliwiec in
Google Scholar
PubMed
Search for other papers by Janusz Myśliwiec in
Google Scholar
PubMed
Search for other papers by Joanna Reszeć in
Google Scholar
PubMed
Search for other papers by Grzegorz Kamiński in
Google Scholar
PubMed
Search for other papers by Janusz Dzięcioł in
Google Scholar
PubMed
Search for other papers by Dorota Tobiaszewska in
Google Scholar
PubMed
Search for other papers by Małgorzata Szelachowska in
Google Scholar
PubMed
Search for other papers by Adam Jacek Krętowski in
Google Scholar
PubMed
Summary
Papillary thyroid gland carcinoma is the most common type of malignancy of the endocrine system. Metastases to the pituitary gland have been described as a complication of papillary thyroid cancer in few reported cases since 1965. We report the case of a 68-year-old female patient with a well-differentiated form of thyroid gland cancer. Despite it being the most common malignant cancer of the endocrine system, with its papillary form being one of the two most frequently diagnosed thyroid cancers, the case we present is extremely rare. Sudden cardiac arrest during ventricular fibrillation occurred during hospitalization. Autopsy of the patient revealed papillary carcinoma of the thyroid, follicular variant, with metastasis to the sella turcica, and concomitant sarcoidosis of heart, lung, and mediastinal and hilar lymph nodes. Not only does atypical metastasis make our patient’s case most remarkable, but also the postmortem diagnosis of sarcoidosis makes her case particularly unusual.
Learning points:
-
The goal of presenting this case is to raise awareness of the clinical heterogeneity of papillary cancer and promote early diagnosis of unexpected metastasis and coexisting diseases to improve clinical outcomes.
-
Clinicians must be skeptical. They should not fall into the trap of diagnostic momentum or accept diagnostic labels at face value. Regardless of the potential mechanisms, clinicians should be aware of the possibility of the coexistence of thyroid cancer and sarcoidosis as a differential diagnosis of lymphadenopathy.
-
This case highlights the importance of the diagnostic and therapeutic planning process and raises awareness of the fact that one uncommon disease could be masked by another extremely rare disorder.
Search for other papers by Kaja Grønning in
Google Scholar
PubMed
Search for other papers by Archana Sharma in
Google Scholar
PubMed
Search for other papers by Maria Adele Mastroianni in
Google Scholar
PubMed
Search for other papers by Bo Daniel Karlsson in
Google Scholar
PubMed
Department of Medicine, Haukeland University Hospital, Bergen, Norway
Search for other papers by Eystein S Husebye in
Google Scholar
PubMed
Department of Medicine, Haukeland University Hospital, Bergen, Norway
Search for other papers by Kristian Løvås in
Google Scholar
PubMed
Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway
Search for other papers by Ingrid Nermoen in
Google Scholar
PubMed
Summary
Primary adrenal lymphoma (PAL) is a rare cause of adrenal insufficiency. More than 90% is of B-cell origin. The condition is bilateral in up to 75% of cases, with adrenal insufficiency in two of three patients. We report two cases of adrenal insufficiency presenting at the age of 70 and 79 years, respectively. Both patients had negative 21-hydroxylase antibodies with bilateral adrenal lesions on CT. Biopsy showed B-cell lymphoma. One of the patients experienced intermittent disease regression on replacement dosage of glucocorticoids.
Learning points:
-
Primary adrenal lymphoma (PAL) is a rare cause of adrenal insufficiency.
-
Bilateral adrenal masses of unknown origin or in individuals with suspected extra-adrenal malignancy should be biopsied quickly when pheochromocytoma is excluded biochemically.
-
Steroid treatment before biopsy may affect diagnosis.
-
Adrenal insufficiency with negative 21-hydroxylase antibodies should be evaluated radiologically.
Division of Pediatric Endocrinology, Memorial University Medical Center, Savannah, Georgia, USA
Search for other papers by Anil Piya in
Google Scholar
PubMed
Anderson Cancer Institute, Memorial University Medical Center, Savannah, Georgia, USA
Search for other papers by Jasmeet Kaur in
Google Scholar
PubMed
Augusta University School of Medicine, Augusta, Georgia, USA
Search for other papers by Alan M Rice in
Google Scholar
PubMed
Anderson Cancer Institute, Memorial University Medical Center, Savannah, Georgia, USA
Search for other papers by Himangshu S Bose in
Google Scholar
PubMed
Summary
Cholesterol transport into the mitochondria is required for synthesis of the first steroid, pregnenolone. Cholesterol is transported by the steroidogenic acute regulatory protein (STAR), which acts at the outer mitochondrial membrane prior to its import. Mutations in the STAR protein result in lipoid congenital adrenal hyperplasia (CAH). Although the STAR protein consists of seven exons, biochemical analysis in nonsteroidogenic COS-1 cells showed that the first two were not essential for pregnenolone synthesis. Here, we present a patient with ambiguous genitalia, salt-lossing crisis within two weeks after birth and low cortisol levels. Sequence analysis of the STAR, including the exon–intron boundaries, showed the complete deletion of exon 1 as well as more than 50 nucleotides upstream of STAR promoter. Mitochondrial protein import with the translated protein through synthesis cassette of the mutant STAR lacking exon 1 showed protein translation, but it is less likely to have synthesized without a promoter in our patient. Thus, a full-length STAR gene is necessary for physiological mitochondrial cholesterol transport in vivo.
Learning points:
-
STAR exon 1 deletion caused lipoid CAH.
-
Exon 1 substitution does not affect biochemical activity.
-
StAR promoter is responsible for gonadal development.
Anderson Cancer Institute, Memorial University Medical Center, Savannah, Georgia, USA
Search for other papers by Jasmeet Kaur in
Google Scholar
PubMed
Augusta University School of Medicine, Augusta, Georgia, USA
Neonatology Intensive Care Unit, Memorial University Medical Center, Georgia, USA
Search for other papers by Alan M Rice in
Google Scholar
PubMed
Search for other papers by Elizabeth O’Connor in
Google Scholar
PubMed
Neonatology Intensive Care Unit, Memorial University Medical Center, Georgia, USA
Search for other papers by Anil Piya in
Google Scholar
PubMed
Search for other papers by Bradley Buckler in
Google Scholar
PubMed
Anderson Cancer Institute, Memorial University Medical Center, Savannah, Georgia, USA
Search for other papers by Himangshu S Bose in
Google Scholar
PubMed
Congenital adrenal hyperplasia (CAH) is caused by mutations in cytochrome P450 side chain cleavage enzyme (CYP11A1 and old name, SCC). Errors in cholesterol side chain cleavage by the mitochondrial resident CYP11A1 results in an inadequate amount of pregnenolone production. This study was performed to evaluate the cause of salt-losing crisis and possible adrenal failure in a pediatric patient whose mother had a history of two previous stillbirths and loss of another baby within a week of birth. CAH can appear in any population in any region of the world. The study was conducted at Memorial University Medical Center and Mercer University School of Medicine. The patient was admitted to Pediatric Endocrinology Clinic due to salt-losing crisis and possible adrenal failure. The patient had CAH, an autosomal recessive disease, due to a novel mutation in exon 5 of the CYP11A1 gene, which generated a truncated protein of 286 amino acids compared with wild-type protein that has 521 amino acids (W286X). Although unrelated, both parents are carriers. Mitochondrial protein import analysis of the mutant CYP11A1 in steroidogenic MA-10 cells showed that the protein is imported in a similar fashion as observed for the wild-type protein and was cleaved to a shorter fragment. However, mutant’s activity was 10% of that obtained for the wild-type protein in non-steroidogenic COS-1 cells. In a patient of Mexican descent, a homozygous CYP11A1 mutation caused CAH, suggesting that this disease is not geographically restricted even in a homogeneous population.
Learning points:
-
Novel mutation in CYP11A1 causes CAH;
-
This is a pure population from Central Mexico;
-
Novel mutation created early truncated protein.
