Diagnosis and Treatment > Signs and Symptoms
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.
Search for other papers by M J Trott in
Google Scholar
PubMed
Search for other papers by G Farah in
Google Scholar
PubMed
Search for other papers by V J Stokes in
Google Scholar
PubMed
Search for other papers by L M Wang in
Google Scholar
PubMed
Search for other papers by A B Grossman in
Google Scholar
PubMed
Summary
We present a case of a young female patient with a rare cause of relapsing and remitting Cushing’s syndrome due to ectopic ACTH secretion from a thymic neuroendocrine tumour. A 34-year-old female presented with a constellation of symptoms of Cushing’s syndrome, including facial swelling, muscle weakness and cognitive impairment. We use the terms ‘relapsing and remitting’ in this case report, given the unpredictable time course of symptoms, which led to a delay of 2 years before the correct diagnosis of hypercortisolaemia. Diagnostic workup confirmed ectopic ACTH secretion, and a thymic mass was seen on mediastinal imaging. The patient subsequently underwent thymectomy with complete resolution of her symptoms. Several case series have documented the association of Cushing’s syndrome with thymic neuroendocrine tumours (NETs), although to our knowledge there are a few published cases of patients with relapsing and remitting symptoms. This case is also notable for the absence of features of the MEN-1 syndrome, along with the female gender of our patient and her history of non-smoking.
Learning points
-
Ectopic corticotrophin (ACTH) secretion should always be considered in the diagnostic workup of young patients with Cushing’s syndrome
-
There is a small but growing body of literature describing the correlation between ectopic ACTH secretion and thymic neuroendocrine tumours (NETs)
-
The possibility of a MEN-1 syndrome should be considered in all patients with thymic NETs, and we note the observational association with male gender and cigarette smoking in this cohort
-
An exception to these associations is the finding of relatively high incidence of thymic NETs among female non-smoking MEN-1 patients in the Japanese compared with Western populations
-
The relapsing and remitting course of our patient’s symptoms is noteworthy, given the paucity of this finding among other published cases
Department of Medicine, Division of Endocrinology and Metabolism, Taipei Veterans General Hospital, Taipei, Taiwan
Search for other papers by Ya-Wun Guo in
Google Scholar
PubMed
Faculty of Medicine, National Yang-Ming University School of Medicine, Taipei, Taiwan
Search for other papers by Chii-Min Hwu in
Google Scholar
PubMed
Faculty of Medicine, National Yang-Ming University School of Medicine, Taipei, Taiwan
Search for other papers by Justin Ging-Shing Won in
Google Scholar
PubMed
Department of Otorhinolaryngology-Head and Neck Surgery, Division of Otology, Taipei Veterans General Hospital, Taipei, Taiwan
Search for other papers by Chia-Huei Chu in
Google Scholar
PubMed
Faculty of Medicine, National Yang-Ming University School of Medicine, Taipei, Taiwan
Search for other papers by Liang-Yu Lin in
Google Scholar
PubMed
Summary
A functional lesion in corticotrophin (ACTH)-independent Cushing’s syndrome is difficult to distinguish from lesions of bilateral adrenal masses. Methods for distinguishing these lesions include adrenal venous sampling and 131I-6β-iodomethyl-19-norcholesterol (131I-NP-59) scintigraphy. We present a case of a 29-year-old Han Chinese female patient with a history of hypercholesterolaemia and polycystic ovary syndrome. She presented with a 6month history of an 8kg body weight gain and gradual rounding of the face. Serial examinations revealed loss of circadian rhythm of cortisol, elevated urinary free-cortisol level and undetectable ACTH level (<5pg/mL). No suppression was observed in both the low- and high-dose dexamethasone suppression tests. Adrenal computed tomography revealed bilateral adrenal masses. Adrenal venous sampling was performed, and the right-to-left lateralisation ratio was 14.29. The finding from adrenal scintigraphy with NP-59 was consistent with right adrenal adenoma. The patient underwent laparoscopic right adrenalectomy, and the pathology report showed adrenocortical adenoma. Her postoperative cortisol level was 3.2μg/dL, and her Cushingoid appearance improved. In sum, both adrenal venous sampling and 131I-NP-59 scintigraphy are good diagnostic methods for Cushing’s syndrome presenting with bilateral adrenal masses.
Learning points
-
The clinical presentation of Cushing’ syndrome includes symptoms and signs of fat redistribution and protein-wasting features.
-
The diagnosis of patients with ACTH-independent Cushing’s syndrome with bilateral adrenal masses is challenging for localisation of the lesion.
-
Both adrenal venous sampling and 131I-NP-59 scintigraphy are good methods to use in these patients with Cushing’s syndrome presenting with bilateral adrenal masses.
Search for other papers by A Pazderska in
Google Scholar
PubMed
Search for other papers by S Crowther in
Google Scholar
PubMed
Search for other papers by P Govender in
Google Scholar
PubMed
Departments of Surgery, Trinity College, Dublin, Ireland
Search for other papers by K C Conlon in
Google Scholar
PubMed
Departments of Endocrinology, Trinity College, Dublin, Ireland
Search for other papers by M Sherlock in
Google Scholar
PubMed
Departments of Endocrinology, Trinity College, Dublin, Ireland
Search for other papers by J Gibney in
Google Scholar
PubMed
Summary
Avascular necrosis (AVN) is a rare presenting feature of endogenous hypercortisolism. If left untreated, complete collapse of the femoral head may ensue, necessitating hip replacement in up to 70% of patients. The majority of the described patients with AVN due to endogenous hypercortisolaemia required surgical intervention. A 36-year-old female, investigated for right leg pain, reported rapid weight gain, bruising and secondary amenorrhoea. She had abdominal adiposity with violaceous striae, facial plethora and hirsutism, atrophic skin, ecchymosis and proximal myopathy. Investigations confirmed cortisol excess (cortisol following low-dose 48h dexamethasone suppression test 807nmol/L; 24h urinary free cortisol 1443nmol (normal<290nmol)). Adrenocorticotrophic hormone (ACTH) was <5.0pg/mL. CT demonstrated subtle left adrenal gland hypertrophy. Hypercortisolaemia persisted after left adrenalectomy. Histology revealed primary pigmented micronodular adrenal disease. Post-operatively, right leg pain worsened and left leg pain developed, affecting mobility. MRI showed bilateral femoral head AVN. She underwent right adrenalectomy and steroid replacement was commenced. Four months after surgery, leg pain had resolved and mobility was normal. Repeat MRI showed marked improvement of radiological abnormalities in both femoral heads, consistent with spontaneous healing of AVN. We report a case of Cushing’s syndrome due to primary pigmented nodular adrenocortical disease, presenting with symptomatic AVN of both hips. This was managed conservatively from an orthopaedic perspective. Following cure of hypercortisolaemia, the patient experienced excellent recovery and remains symptom free 4 years after adrenalectomy. This is the first report of a favourable outcome over long-term follow-up of a patient with bilateral AVN of the hip, which reversed with treatment of endogenous hypercortisolaemia.
Learning points
-
AVN of femoral head can be a presenting feature of hypercortisolism, both endogenous and exogenous.
-
Rarely, treatment of hypercortisolaemia can reverse AVN without the need for orthopaedic intervention.
-
Primary pigmented nodular adrenal disease is a rare cause of ACTH-independent Cushing’s syndrome.
