Diagnosis and Treatment > Signs and Symptoms
Search for other papers by Sharmin Jahan in
Google Scholar
PubMed
Search for other papers by M A Hasanat in
Google Scholar
PubMed
Search for other papers by Tahseen Mahmood in
Google Scholar
PubMed
Search for other papers by Shahed Morshed in
Google Scholar
PubMed
Search for other papers by Raziul Haq in
Google Scholar
PubMed
Search for other papers by Md Fariduddin in
Google Scholar
PubMed
Summary
Silent corticotroph adenoma (SCA) is an unusual type of nonfunctioning pituitary adenoma (NFA) that is silent both clinically and biochemically and can only be recognized by positive immunostaining for ACTH. Under rare circumstances, it can transform into hormonally active disease presenting with severe Cushing syndrome. It might often produce diagnostic dilemma with difficult management issue if not thoroughly investigated and subtyped accordingly following surgery. Here, we present a 21-year-old male who initially underwent pituitary adenomectomy for presumed NFA with compressive symptoms. However, he developed recurrent and invasive macroadenoma with severe clinical as well as biochemical hypercortisolism during post-surgical follow-up. Repeat pituitary surgery was carried out urgently as there was significant optic chiasmal compression. Immunohistochemical analysis of the tumor tissue obtained on repeat surgery proved it to be an aggressive corticotroph adenoma. Though not cured, he showed marked clinical and biochemical improvement in the immediate postoperative period. Anticipating recurrence from the residual tumor, we referred him for cyber knife radio surgery.
Learning points:
-
Pituitary NFA commonly present with compressive symptoms such as headache and blurred vision.
-
Post-surgical development of Cushing syndrome in such a case could be either drug induced or endogenous.
-
In the presence of recurrent pituitary tumor, ACTH-dependent Cushing syndrome indicates CD.
-
Rarely a SCA presenting initially as NFA can transform into an active corticotroph adenoma.
-
Immunohistochemical marker for ACTH in the resected tumor confirms the diagnosis.
Search for other papers by Yang Timothy Du in
Google Scholar
PubMed
SA Pathology, Women’s and Children’s Hospital
Search for other papers by Lynette Moore in
Google Scholar
PubMed
Search for other papers by Nicola K Poplawski in
Google Scholar
PubMed
School of Medicine, University of Adelaide
Adult Genetics Unit, Royal Adelaide Hospital
Center for Cancer Biology, SA Pathology and University of South Australia Alliance, Adelaide, South Australia, Australia
Search for other papers by Sunita M C De Sousa in
Google Scholar
PubMed
Summary
A 26-year-old man presented with a combination of permanent neonatal diabetes due to pancreatic aplasia, complex congenital heart disease, central hypogonadism and growth hormone deficiency, structural renal abnormalities with proteinuria, umbilical hernia, neurocognitive impairment and dysmorphic features. His older brother had diabetes mellitus due to pancreatic hypoplasia, complex congenital heart disease, hypospadias and umbilical hernia. Their father had an atrial septal defect, umbilical hernia and diabetes mellitus diagnosed incidentally in adulthood on employment screening. The proband’s paternal grandmother had a congenital heart defect. Genetic testing of the proband revealed a novel heterozygous missense variant (Chr18:g.19761441T>C, c.1330T>C, p.Cys444Arg) in exon 4 of GATA6, which is class 5 (pathogenic) using American College of Medical Genetics and Genomics guidelines and is likely to account for his multisystem disorder. The same variant was detected in his brother and father, but not his paternal grandmother. This novel variant of GATA6 likely occurred de novo in the father with autosomal dominant inheritance in the proband and his brother. The case is exceptional as very few families with monogenic diabetes due to GATA6 mutations have been reported to date and we describe a new link between GATA6 and renal pathology.
Learning points:
-
Monogenic diabetes should be suspected in patients presenting with syndromic features, multisystem congenital disease, neonatal-onset diabetes and/or a suggestive family history.
-
Recognition and identification of genetic diabetes may improve patient understanding and empowerment and allow for better tailored management.
-
Identification of a genetic disorder may have important implications for family planning.
Search for other papers by Maria Mercedes Pineyro in
Google Scholar
PubMed
Search for other papers by Daiana Arrestia in
Google Scholar
PubMed
Search for other papers by Mariana Elhordoy in
Google Scholar
PubMed
Search for other papers by Ramiro Lima in
Google Scholar
PubMed
Search for other papers by Saul Wajskopf in
Google Scholar
PubMed
Search for other papers by Raul Pisabarro in
Google Scholar
PubMed
Search for other papers by Maria Pilar Serra in
Google Scholar
PubMed
Summary
Spontaneous reossification of the sellar floor after transsphenoidal surgery has been rarely reported. Strontium ranelate, a divalent strontium salt, has been shown to increase bone formation, increasing osteoblast activity. We describe an unusual case of a young patient with Cushing’s disease who was treated with strontium ranelate for low bone mass who experienced spontaneous sellar reossification after transsphenoidal surgery. A 21-year-old male presented with Cushing’s features. His past medical history included delayed puberty diagnosed at 16 years, treated with testosterone for 3 years without further work-up. He was diagnosed with Cushing’s disease initially treated with transsphenoidal surgery, which was not curative. The patient did not come to follow-up visits for more than 1 year. He was prescribed strontium ranelate 2 g orally once daily for low bone mass by an outside endocrinologist, which he received for more than 1 year. Two years after first surgery he was reevaluated and persisted with active Cushing’s disease. Magnetic resonance image revealed a left 4 mm hypointense mass, with sphenoid sinus occupation by a hyperintense material. At repeated transsphenoidal surgery, sellar bone had a very hard consistency; surgery was complicated and the patient died. Sellar reossification negatively impacted surgery outcomes in this patient. While this entity is possible after transsphenoidal surgery, it remains unclear whether strontium ranelate could have affected sellar ossification.
Learning points:
-
Delayed puberty can be a manifestation of Cushing’s syndrome. A complete history, physical examination and appropriate work-up should be performed before initiating any treatment.
-
Sellar reossification should always be taken into account when considering repeated transsphenoidal surgery. Detailed preoperative evaluation of bony structures by computed tomography ought to be performed in all cases of reoperation.
-
We speculate if strontium ranelate may have affected bone mineralization at the sellar floor. We strongly recommend that indications for prescribing this drug should be carefully followed.
