Patient Demographics > Age > Adolescent/young adult
You are looking at 121 - 128 of 128 items
Search for other papers by Ramez Ibrahim in
Google Scholar
PubMed
Search for other papers by Atul Kalhan in
Google Scholar
PubMed
Search for other papers by Alistair Lammie in
Google Scholar
PubMed
Search for other papers by Christine Kotonya in
Google Scholar
PubMed
Search for other papers by Ravindra Nannapanenni in
Google Scholar
PubMed
Search for other papers by Aled Rees in
Google Scholar
PubMed
Summary
A 30-year-old female presented with a history of secondary amenorrhoea, acromegalic features and progressive visual deterioration. She had elevated serum IGF1 levels and unsuppressed GH levels after an oral glucose tolerance test. Magnetic resonance imaging revealed a heterogeneously enhancing space-occupying lesion with atypical extensive calcification within the sellar and suprasellar areas. Owing to the extent of calcification, the tumour was a surgical challenge. Postoperatively, there was clinical, radiological and biochemical evidence of residual disease, which required treatment with a somatostatin analogue and radiotherapy. Mutational analysis of the aryl hydrocarbon receptor-interacting protein (AIP) gene was negative. This case confirms the relatively rare occurrence of calcification within a pituitary macroadenoma and its associated management problems. The presentation, biochemical, radiological and pathological findings are discussed in the context of the relevant literature.
Learning points
-
Calcification of pituitary tumours is relatively rare.
-
Recognising calcification in pituitary adenomas on preoperative imaging is important in surgical decision-making.
-
Gross total resection can be difficult to achieve in the presence of extensive calcification and dictates further management and follow-up to achieve disease control.
Search for other papers by Caterina Policola in
Google Scholar
PubMed
Search for other papers by Victoria Stokes in
Google Scholar
PubMed
Search for other papers by Niki Karavitaki in
Google Scholar
PubMed
Search for other papers by Ashley Grossman in
Google Scholar
PubMed
Summary
Opiate drugs such as morphine are in extensive use for pain relief and palliation. It is well established that these drugs can cause changes in endocrine function, but such effects are not always sufficiently appreciated in clinical practice, especially in relation to the hypothalamic–pituitary–adrenal (HPA) axis. Herein, we report on an 18-year-old man who was diagnosed with a slipped left femoral epiphysis following a long history of pain in his leg. On examination, he was thought to look relatively young for his age and therefore the orthopaedic surgeons arranged an endocrine assessment, which showed an undetectable concentration of serum cortisol and a suppressed concentration of testosterone; therefore, he was referred urgently with a diagnosis of hypopituitarism. We elicited a history that he had been treated with opiate analgesics for 3 days at the time of his original blood tests. Full endocrine assessment including a short Synacthen test revealed that he now had normal adrenal and pituitary function. We conclude that his morphine therapy had caused profound suppression of his HPA and pituitary–gonadal axes and suggest that clinicians should be aware of these significant changes in patients on even short-term opiate therapy.
Learning points
-
Therapy with opiates is the standard therapy for severe acute and chronic pain.
-
Such drugs cause profound changes in endocrine function.
-
Importantly, opiates suppress the HPA axis at a central level.
-
Short-term therapy with morphine could be the cause of biochemical adrenocortical insufficiency.
-
Morphine and related drugs also suppress the pituitary–gonadal axis.
-
After discontinuation of therapy with such drugs, adrenal function improves.
Search for other papers by Betty Korljan Jelaska in
Google Scholar
PubMed
Search for other papers by Sanja Baršić Ostojić in
Google Scholar
PubMed
Search for other papers by Nina Berović in
Google Scholar
PubMed
Search for other papers by Višnja Kokić in
Google Scholar
PubMed
Summary
Glycogen storage disease (GSD) type I is characterized by impaired production of glucose from glycogenolysis and gluconeogenesis resulting in severe hypoglycaemia and increased production of lactic acid, triglyceride and uric acid. The most common type, glycogenosis type Ia, demands a balanced, sufficient carbohydrate intake to preserve normal 24-h glycaemia. Insufficient intake of carbohydrates can cause hypoglycaemia, as the missing glucose-6-phosphatase enzyme cannot free the glucose stored as liver glycogen and nor is gluconeogenesis possible. The principle means of handling this disorder is to avoid starving by taking regular meals during the day and night. Such a dietary regimen could lead to obesity. Herein, we present the case of an adult patient with glycogenosis type Ia suffering from hyperuricaemia, dyslipidaemia and arterial hypertension. The accumulation of these cardiovascular risk factors could lead to the early onset of atherosclerosis, which should be postponed by contemporary methods of surveillance and treatment.
Learning points
-
Continuous subcutaneous glucose monitoring may be of value in every adult patient with GSD type I to evaluate the actual prevalence of eventual hypoglycaemic and hyperglycaemic episodes.
-
Good dietary management minimizes the metabolic abnormalities of the disease and decreases the risk of long-term complications.
-
Treatment of obesity in patients with GSD reduces the risk of earlier atherosclerosis and cardiovascular disease.
Search for other papers by Pramila Dharmshaktu in
Google Scholar
PubMed
Search for other papers by Aditya Kutiyal in
Google Scholar
PubMed
Search for other papers by Dinesh Dhanwal in
Google Scholar
PubMed
Summary
A 21-year-old female patient recently diagnosed with severe hypothyroidism was found to have a large ovarian cyst. In view of the large ovarian cyst, she was advised to undergo elective laparotomy in the gynaecology department. She was further evaluated in our medical out-patient department (OPD), and elective surgery was withheld. She was started on thyroxine replacement therapy, and within a period of 4 months, the size of the cyst regressed significantly, thereby improving the condition of the patient significantly. This case report highlights the rare and often missed association between hypothyroidism and ovarian cysts. Although very rare, profound hypothyroidism that can cause ovarian cysts in an adult should always be kept in the differential diagnosis to avoid unnecessary ovarian surgery.
Learning points
-
Hypothyroidism should be considered in the differential diagnosis of adult females presenting with multicystic ovarian tumours.
-
Adequate thyroid hormone replacement therapy can prevent these patients from undergoing unnecessary and catastrophic ovarian resection.
-
Surgical excision should be considered only when adequate thyroid replacement therapy fails to resolve ovarian enlargement.
-
In younger women with ovarian cysts, it is also desirable to avoid unnecessary surgery so as to not compromise fertility in the future.
Search for other papers by M S Draman in
Google Scholar
PubMed
Search for other papers by H Thabit in
Google Scholar
PubMed
Search for other papers by T J Kiernan in
Google Scholar
PubMed
Search for other papers by J O'Neill in
Google Scholar
PubMed
Search for other papers by S Sreenan in
Google Scholar
PubMed
Search for other papers by J H McDermott in
Google Scholar
PubMed
Summary
Silent myocardial ischaemia (SMI), defined as objective evidence of myocardial ischaemia in the absence of symptoms, has important clinical implications for the patient with coronary artery disease. We present a dramatic case of SMI in a diabetes patient who attended annual review clinic with ST elevation myocardial infarction. His troponin was normal on admission but raised to 10.7 ng/ml (normal <0.5) when repeated the next day. His angiogram showed diffused coronary artery disease. We here discuss the implications of silent ischaemia for the patient and for the physician caring for patients with diabetes.
Learning points
-
Silent myocardial ischaemia (SMI) is an important clinical entity.
-
SMI is common and occurs with increased frequency in patients with diabetes.
-
SMI is an independent predictor of mortality.
-
Recognition may lead to early intervention.
Search for other papers by R Casey in
Google Scholar
PubMed
Search for other papers by S Prendeville in
Google Scholar
PubMed
Search for other papers by C Joyce in
Google Scholar
PubMed
Search for other papers by D O'Halloran in
Google Scholar
PubMed
Summary
We present the case of a 30-year-old female who was diagnosed with hereditary phaeochromocytoma secondary to a rare gene mutation in exon 8 of the RET oncogene. This genetic mutation was picked up as part of an extended genetic screen using a method known as next generation sequencing. Detection of this genetic mutation prompted further screening for the manifestation of multiple endocrine neoplasia type 2A (MEN2A). The patient subsequently underwent a thyroidectomy with histology confirming C-cell hyperplasia.
Learning points
-
Genetic analysis is an important step in the diagnostic work up of phaeochromocytoma.
-
Extended genetic analysis is important when there is a strong suspicion of hereditary phaeochromocytoma.
-
Mutations in exon 8 of the RET gene are associated with phaeochromocytoma as part of MEN2A syndrome.
Search for other papers by S A S Aftab in
Google Scholar
PubMed
Search for other papers by N Reddy in
Google Scholar
PubMed
Search for other papers by N L Owen in
Google Scholar
PubMed
Search for other papers by R Pollitt in
Google Scholar
PubMed
Search for other papers by A Harte in
Google Scholar
PubMed
Search for other papers by P G McTernan in
Google Scholar
PubMed
Search for other papers by G Tripathi in
Google Scholar
PubMed
Search for other papers by T M Barber in
Google Scholar
PubMed
Summary
A 19-year-old woman was diagnosed with osteogenesis imperfecta (OI). She had sustained numerous low-trauma fractures throughout her childhood, including a recent pelvic fracture (superior and inferior ramus) following a low-impact fall. She had the classical blue sclerae, and dual energy X-ray absorptiometry (DEXA) bone scanning confirmed low bone mass for her age in the lumbar spine (Z-score was −2.6). However, despite these classical clinical features, the diagnosis of OI had not been entertained throughout the whole of her childhood. Sequencing of her genomic DNA revealed that she was heterozygous for the c.3880_3883dup mutation in exon 50 of the COL1A1 gene. This mutation is predicted to result in a frameshift at p.Thr1295, and truncating stop codon 3 amino acids downstream. To our knowledge, this mutation has not previously been reported in OI.
Learning points
-
OI is a rare but important genetic metabolic bone and connective tissue disorder that manifests a diverse clinical phenotype that includes recurrent low-impact fractures.
-
Most mutations that underlie OI occur within exon 50 of the COL1A1 gene (coding for protein constituents of type 1 pro-collagen).
-
The diagnosis of OI is easily missed in its mild form. Early diagnosis is important, and there is a need for improved awareness of OI among health care professionals.
-
OI is a diagnosis of exclusion, although the key diagnostic criterion is through genetic testing for mutations within the COL1A1 gene.
-
Effective management of OI should be instituted through a multidisciplinary team approach that includes a bone specialist (usually an endocrinologist or rheumatologist), a geneticist, an audiometrist and a genetic counsellor. Physiotherapy and orthopaedic surgery may also be required.
Search for other papers by Roghieh Molaei Langroudi in
Google Scholar
PubMed
Search for other papers by Fatemeh Ghazanfari Amlashi in
Google Scholar
PubMed
Search for other papers by Mohammad Hassan Hedayati Emami in
Google Scholar
PubMed
Summary
Background: Spontaneous ovarian hyperstimulation syndrome (sOHSS) can occur following hypothyroidism. Ultrasonography facilitates diagnosis and monitoring of this syndrome. We describe ovarian sonographic changes in a hypothyroid patient with sOHSS after treatment with levothyroxine (l-T4).
Case presentation: A 15-year-old girl presented with abdominal pain and distension for a few months. On examination, she had classical features of hypothyroidism. Abdominal and pelvic ultrasound revealed enlarged ovaries with multiple thin-walled cysts and mild ascitic fluid. On follow-up, abdominal ultrasound showed significant reduction of ovary size after 6 weeks of initiation of l-T4. Normal ovary size with complete regression of ovarian cysts was seen after 4 months.
Conclusion: Serial ultrasound in sOHSS associated with hypothyroidism showed regression of ovarian cysts and ovarian volume after 4 months whereas in other studies, it is reported to happen in various durations, presumably according to its etiology.
Learning points
-
OHSS can rarely occur due to hypothyroidism.
-
This type of OHSS can be simply treated by l-T4 replacement, rather than conservative management or surgery in severe cases.
-
Ultrasound follow-up shows significant regression of ovarian size and cysts within 6 weeks of initiation of l-T4.
-
Ultrasound follow-up shows normal ovarian size with complete resolution of ovarian cysts 4 months after treatment.