Endocrine Abstracts

Combined pituitary hormone deficiency (CPHD) denotes impaired production of growth hormone (GH) and of one or more other pituitary trophic hormones. Distinct subtypes of CPHD have been shown to be due to mutations in different homeobox transcription factors, which are involved in pituitary development and organogenesis. So far, only PROP-1 and HESX1 mutations have been associated with CPHD comprising corticotropin deficiency. Here we report two patients with a novel form of CP...

We report two ladies who presented with thyroid dysfunction associated with neck swelling. In both cases within ten days of consultation they developed rapid enlargement of their mass associated with marked swelling of an arm.Case 1. A 63 year old lady developed sudden onset of a thyroid swelling associated with a new diagnosis of primary hypothyroidism . She had lost weight and felt tired. On examination she had a moderately enlarged woody goitre, there was no associated ...

An ovo-testis (a gonad showing aspects of both ovarian and testicular function) occurs in some 60% of true hermaphrodites. They may be located in the labio-scrotal folds, inguinal canal or abdomen and are often removed prior to or shortly after the onset of puberty. Though the potential for ovulatory function within such a gonad is acknowledged, it is rarely witnessed and there are few detailed descriptions of the phenomenon. We describe serial observations of this process in ...

Mutations of the DAX-1 gene cause X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism. Two half brothers (same mother, different fathers) were diagnosed as having Addison's aged14 years (brother A) and 7 years (brother B). Their mother had haemochromatosis being homozygous for the Cys 282 Tyr mutation of the HFE gene. Both had delayed pubertal development but defaulted from follow up. Brother A re-presented at 29 years of age with infertility. In view of t...

Gender Identity Disorder (GID) has been recognised since the 1950s. The reported prevalence for GID is up to 1 in 30,000 in men and 1 in 100,000 in women. We reviewed 16 patients who were determined to have met the diagnostic criteria for GID and were referred to our clinic for advice on hormonal treatment (HT) - the second phase of the triadic treatment protocol for gender reassignment.The mean age of the group is 32years (Range 18 to 51years). Thirteen have male to femal...

A 77 year old man developed a severe progressive polyneuropathy associated with significant disability. He was also found to have type 2 diabetes mellitus and antibody-negative primary hypothyroidism and was treated with gliclazide and thyroxine to good effect. Nerve conduction studies showed a demyelinating type neuropathy that was not typical of diabetic neuropathy. Two years later he was admitted with an episode of severe hypoglycaemia accompanied by low blood pressure, hyp...

A 32 year old Indian woman presented with a spontaneous patella fracture. Serum alkaline phosphatase was 3694 units per litre, calcium was 3.12 millimoles per litre and phosphate 0.81 millimoles per litre. Serum PTH concentration was >150 picomoles per litre and the 25-hyroxyvitamin D3 concentration was 7 nanomoles per litre. She was found to have a 5 cm parathyroid adenoma. A 44 year old Somalian woman presented to the rheumatology clinic with a 2 year history of aching in...

The Pituitary Foundation was founded in 1994 when a group of endocrinologists, GPs and patients identified the need for a support group for patients with pituitary disease. Charitable status followed in 1996. It's core aims are to provide support to patients, their families and carers, to act as a source of reliable information and to increase awareness of the Foundation and pituitary disease within the medical profession and the general public. Membership, services and public...

A 41 year old woman presented with a 4 month history of oropharyngeal spasms precipitated by eating, yawning or talking. Such manouvres caused her to fear for her life due to profound choking and 'going blue';as a result she had stopped eating. On direct questioning she complained of circumoral tingling, paraesthesia and carpopedal spasm. She described profuse diarrhoea over the preceding year and had lost 15 kilograms. She was taking no drugs to interfere ith calcium homeosta...

A 16-year-old boy was referred to our endocrine unit. He had been diagnosed with constitutional short stature (height <10th centile) aged 11, having not grown well for two years. At that time there were no features to suggest Cushing's syndrome (CS), though he was overweight (BMI 22kg/m2, >90th centile) and bone age was delayed by 2 years. A trial of growth hormone (GH) therapy did not increase growth velocity. By age 15, he was developin...

Gorham-Stout disease is a rare, potentially life threatening skeletal disorder of unknown aetiology. It is characterized by local proliferation of abnormal vessels associated with profound osteolysis. Optimum treatment remains to be established. Herein we report the case of a 45-year-old woman who presented with left-sided thoracic pain, which had gradually increased over the last nine months. Physical examination revealed a primary lymphoedema of the left arm, which had devel...

A 43 year old man presented following a seizure. Past history included cranial irradiation 18 years ago for nasopharyngeal carcinoma (NPC). Blood pressure was 100/66 with a postural drop. Examination revealed a bilateral sixth nerve palsy. The only biochemical abnormality on admission was a serum sodium of 117 millimoles per litre. A cranial CT scan was normal.Further investigation included thyroid stimulating hormone of 3.92 milliunits per litre, a free T4 of 4 picomoles ...

Adverse effects of steroid excess on bone metabolism are well established but presentation of Cushing's syndrome with metabolic bone disease is reported to be uncommon. We describe a case of Cushing's syndrome presenting with pathological fractures probably present for 8 years before diagnosis.A 33 year old nurse first sustained spontaneous stress fractures of her metatarsals in 1994, with repeated fractures occurring up to 2002. In 2001 she developed hypertension, acute l...

Agranulocytosis is a well recognised but rare side effect of carbimazole therapy which usually occurs within the first 3 months of treatment .We report the case of a 55 year old woman with Graves disease, who developed delayed carbimazole induced agranulocytosis, precipitating a thyroid crisis.Our patient presented with clinical and biochemical evidence of hyperthyroidism in 1998. She was treated with carbimazole and thyroxine in a standard block and replace regimen, this was ...

A 31 year old woman presented to the emergency department after 3 days of diarrhoea and vomiting. She was 18 months post partum and had lost 19 kg in two months. She described sweats, tremor and palpitations which had been attributed to recent emotional stress. There was no history of ingestion of iodinous compounds or family history of thyroid dysfunction. On examination the patient was tremulous, pale, cachexic, and tachycardic. There was a smooth goitre with no retrosternal...

Hyponatraemia is recognised as a serious metabolic emergency with varied aetiology. We report an unusual case of hyponatraemia.A 36 year old woman was admitted following a seizure. Her relationship with her boyfriend had recently ended. She was disorientated with a GCS of 11/15. She was apyrexial and examination was unremarkable. Old notes recorded an interest in complimentary health and 'systemic' candidiasis.A drug overdose was suspected until plasma biochemistry ret...

Congenital Generalised Lipodystrophy (CGL) is characterised by an inability to store energy in adipose tissue. Integral to CGL is severe insulin resistance resulting in hyperinsulinaemia and premature Type 2 diabetes (DM). Sulphonylureas are ineffective in CGL whilst insulin therapy is complicated by insulin resistance and absence of subcutaneous fat. We explored the possibility of using Metformin and Pioglitazone (both insulin sensitising agents) in CGL.PD presented aged ...

Laparoscopic adrenalectomy has become increasingly popular because of its minimally invasive nature for managing benign pathologies of the adrenals and isolated adrenal metastases, but selection of cases suitable for this surgical procedure is very important.We report a 61 year old lady who presented with symptoms of easy bruising, flushing, hoarse voice, weight gain and proximal muscle weakness. On examination, she was had moon facies, skin bruising and was hypertensive. ...

A 5-month-old child presented with progressive lethargy and loss of motor skills. His mother had pre-existing type 1 diabetes with good glycaemic control throughout gestation (HBA1c 7.3% at booking, 5.5% at 20 weeks). She was euthyroid during pregnancy but had a high titre of thyroid microsomal antibodies (25600). Full blood count was normal at booking and delivery (haemoglobin 12.3 and 11.8 grams per decilitre, MCV 83 and 84 respectively). She was not vegetarian.The child...

Classical congenital adrenal hyperplasia (CAH) usually presents at birth with ambiguous genitalia or adrenal failure. Non-classical forms can present later with precocious puberty or may only present, in early adult life, with hyperandrogenism and amenorrhoea.An 86 year old lady presented with a toxic confusional state, male pattern balding and hirsuitism. Little history was available. The provisional diagnosis was an androgen secreting tumour, however, a history taken fro...

BACKGROUND: Dynamic function tests are needed to diagnose a range of endocrine disorders but often require in-patient investigation. A recent audit of our endocrine service revealed deficiencies that included frequent delay to investigations and cancellation of planned appointments. We developed an Endocrine Nurse Specialist (ENS) post whose role included carrying out endocrine testing in an out-patient setting to assess whether this might improve quality of care for our patie...

The mitochondrial enzyme 25-hydroxyvitamin D(sub)3 1-alpha-hydroxylase plays an important role in the synthesis of active 1,25-dihydroxyvitamin D(sub)3 in both renal and extra-adrenal tissues such as granulamatous tissue. There is an increased expression of 1-alpha-hydroxlase in sarcoidosis. This can result in hypercalcaemia secondary to elevated 1,25-dihydroxyvitamin D(sub)3.We present a case of a 81 year old retired GP with long-standing hypercalcaemia associated with a ...

A previously well 46-year-old nulliparous woman presented with nausea, polydipsia, polyuria, nocturia, loss of appetite, weight loss of 3 months and secondary amenorrhoea of 9 months duration.Examination revealed the presence of a mass apparently arising from the pelvis, this being confirmed by CT scanning. Investigations: calcium 4.3millimols per litre, phosphate 0.8millimols per litre, albumin 45grams per litre, parathyroid hormone <0.6picomols per litre (1.6-6.9), gl...

A case of ectopic ACTH with severe opportunistic infectionECI Hatfield, S Pal, K Meeran, G Williams, JF Todd.Endocrine Unit, Imperial College, Hammersmith Hospital, London, UKA twenty six year old female presented with symptoms and signs suggestive of Cushing's Syndrome. Initial investigations showed hypokalaemia (potassium 2.3nmol/L), elevated urinary free cortisols, (3400, 18,000, 31,000 nmol/24 hour (NR <270)), diabetes (fasting glucose =9 mmol/L), loss of di...

Phaeochromocytoma crisis is a rare life-threatening emergency and a diagnostic challenge.Over a 5 year period four patients (2 male, mean age of 38.5 years, range 29-51 years) presented to our intensive care unit with unexplained severe cardiopulmonary dysfunction. Other clinical features included pulmonary infiltrates (4/4), vomiting (3/4), palpitations (2/4), breathlessness (4/4), acute renal failure (2/4), fever (1/4) and abdominal discomfort (1/4). Hypertension was pre...

A female presented in 1994 at age 28 with typical symptoms and signs of hyperthyroidism (FT4 39 picomol per litre, TSH < 0.05 milliunit per litre) and associated ophthalmopathy (bilateral exophthalmos, lid retraction and conjunctival inflammation), consistent with Graves' disease. Initially treated successfully with Carbimazole. She relapsed after stopping Carbimazole and in 1998 underwent sub-total thyroidectomy, with residual thyroid tissue left at the inferior poles bila...

Background: The most efficacious and acceptable form of testosterone replacement therapy remains a matter of debate. Proponents of testosterone implant therapy suggest implant therapy is the most acceptable form to patients with high continuation rates. Current practise within our hospital has led to increasing numbers of patients receiving implant therapy.Methods: We performed a retrospective postal questionnaire to determine the views of our implant recipients. Recipient...

A 31 year old man with a 12 month history of uncontrolled hypertension was referred for further investigation. He complained of easy bruising, muscle weakness and severe back and hip pains. Clinical signs included cushingnoid facies, centripetal obesity, atrophic skin, peripheral oedema and BP of 150/104. Initial investigations confirmed Cushing's syndrome with 24 hour urinary free cortisol 696 nanomols per litre and 9am plasma cortisol 658 nanomols per litre following midnigh...

A 59 year old woman was referred for further management of Cushings syndrome confirmed in another hospital. Presenting features included proximal myopathy, hypertension and hypokalaemia. Corticotrophin releasing hormone testing suggested an ectopic ACTH source.Within 48 hours of admission for petrosal sinus sampling, the patient acutely deteriorated with type 1 respiratory failure requiring ventilatory support. A chest radiograph and computed tomography scan revealed a rig...

Adrenal incidentalomas are increasingly recognised with the use of abdominal imaging with prevalence ranging from 0.35-0.45%. The vast majority of these are benign adrenocortical adenomas. Increasingly, subclinical hypercortisolism is recognised in such cases.We describe a case of a 34-year-old asymptomatic primigravida with chance recognition of an adrenal mass during an obstetric ultrasound. Biochemical testing revealed consistently normal urinary catecholamine and eleva...

Background: True cyclical Cushing's syndrome is rare and usually due to an ACTH-secreting corticotrophinoma. We describe a man with cyclical Cushing's syndrome of 15 years duration who had unexpected pituitary immunohistopathology.Clinical details: A 22-year-old man presented in 1986 with clinical features of Cushing's syndrome & urinary free cortisols up to 1800 nmol/24h, but normal low-dose DXM suppression, & normal pituitary and adrenals on CT. He was then lost ...

Introduction: We report a patient with a solitary fibrous mesothelioma producing insulin -like growth factor (IGF) II who presented with recurrent episodes of early morning acute disorientation and agitation. .On examination he was noted to have decreased air entry at the right base and midzone and a mass in the right hypochondrium. . Radiologic imaging showed a large pleural based mass which almost completely filled the right hemithorax. When symptomatic hypoglycaemia was...

A 70 yr old man presented with an episode of syncope and complaints of leg weakness. He was hypogonadal with coarse facial features and a marked proximal myopathy. Hypopituitarism was confirmed biochemically: serum FT4 7.7 pmol/l (9.7-25.7), TSH 1.65 mIU/l (0.05-5.00), FSH 1.8 IU/l (1.6-18.0), LH 1.0 IU/l (2.0-18.0), testosterone 1.13 nmol/l (5.70-28.8) and 9am cortisol 122 nmol/l. Treatment with hydrocortisone and thyroxine was commenced. Further investigation revealed elevat...

The low incidence of acromegaly makes it difficult for any individual centre to gather prospective data on a large enough series of patients to enable satisfactory epidemiological and other research to take place. In 1998, eight centres agreed to set up a collaborative database with a view to accumulating a major series covering the main treatment centres. The project has now been active for several years and there are currently seventeen participating centres. Any centre that...

Gynaecomastia in elderly males is relatively common and could be due to age-related endocrinological and metabolic disorders, drugs and other medical conditions. We report on the case of a 72 year old male smoker who presented with a 10 month history of painful unilateral gynaecomastia, lethargy and weight-loss. He had a past medical history of type 2 diabetes, atrial fibrillation, ischaemic heart disease, hypertension, stroke and monoclonal gammopathy. He was taking Clopidogr...

A 44 year old man was referred with a 3-week history of progressive visual failure without headaches. He had bitemporal hemianopia but no evidence of endocrine dysfunction. MR scanning revealed a large pituitary macroadenoma with evidence of intralesional haemorrhage and compression of the optic chiasm. Endocrine testing revealed no evidence of a hormone excess syndrome or hypopituitarism. Transphenoidal hypophysectomy was performed urgently in May 2000 and his vision improved...

Hirsutism of gradual onset is most commonly caused by polycystic ovarian syndrome (PCOS). Measurement of testosterone, sex-hormone binding globulin (SHBG), LH and FSH form part of the investigations. It is still a matter of debate at which level of testosterone further investigations are necessary to exclude an androgen-producing tumor.A 31-year-old woman presented with an eight-year history of hirsutism without her fertility and menstrual cycles being affected. Examinatio...

A 35 year old steel worker with a background of congenital adrenal hyperplasia (CAH) presented with a six month history of bilateral testicular swellings. CAH was diagnosed at 2 weeks of age. He was discharged from the paediatric service at 18 years and remained on an unchanged of hydrocortisone 10mg BD and fludrocortisone 0.25mg OD from that time. Two younger male siblings, of equal stature, and a nephew of 18 months were unaffected. He was normotensive, final height 5 8, wit...

A 35-year-old lady presented 20 years ago with difficulty in walking. She was born in Newcastle and was brought up by her mother with no contact with father. Early childhood was further traumatised when mother moved in with a man affected from multiple sclerosis with whom she never adjusted. Consequently, she was placed with two foster parents but could not adjust there either. Two years earlier, she was admitted in hospital with drug overdose. By age 25, she had hypothyroidis...

Case A:A 15 year old girl was found to have a sellar mass on MR in the course of investigations for secondary amenorrhoea. Prolactin was normal at 305 milliunits per litre and random coritsol was 92 nanomols per litre. She was lost to follow up, but re-presented 2 years later with lethargy and headaches. Investigations revealed hypopituitarism with low free T4, gonadotrophins, prolactin, oestradiol, and peak cortisol of 85 nanomols per litre and undetectable GH with insuli...

Introduction: Lymphocytic hypophysitis is a rare autoimmune disease predominantly affecting females in the antepartum and postpartum period. It is characterized by destruction and lymphocytic infiltration of predominantly adenohypophysis with various degrees of hypopituitarism. Posteriour pituitary gland involvement is rare but has been reported. We report a case of a 32 year old lady who presented with diabetes insipidus and hypoadrenalism.Case: A 32 year old lady complai...

It is recognised that growth hormone deficiency causes disturbances in reproductive function. Indeed growth hormone has been used for ovulation induction in the treatment of subfertility in women with hypopituitarism. During normal pregnancy growth hormone is produced by the placenta (placental growth hormone). From 15 to 20 weeks gestation placental growth hormone gradually replaces pituitary growth hormone in the maternal circulation and is the main determinant of maternal I...

A 64 year-old woman was referred because of male pattern baldness and hirsutism. There were no virilizing or Cushingoid features and no abnormalities on gynaecological assessment.Investigations: Testosterone 7.4 nmol/L [0-2.4], FSH 81.0 iu/L, LH 38.3 iu/L, 17 Alpha hydroxyprogesterone 11.0 nmol/L [0-10], Free androgen index 21.1 [0-7.5], DHEA sulphate 1.9 micromol/L [2.2-10.0], urine free cortisol less than 150 nmol/24 hrs. Chest x-ray normal, abdominal and pelvic ultrasou...

A 33-year-old woman was referred to endocrinology outpatient for preoperative evaluation of a pituitary tumour and galactorrhoea. She was asymptomatic one and a half years ago when she developed bilateral galactorrhoea. She was on oral contraceptive pills (ethinyloestradiol and gestodene) for last two and a half years. She had no other complaints. Menarche was at the age of 15 years. Clinically she was found to be normal, except for bilateral expressive galactorrhoea. Serum pr...

Carney complex consists of endocrine, cardiac, cutaneous and neural tumours, as well as pigmented lesions in the skin and mucosae. Endocrine manifestations include primary pigmented nodular adrenocortical disease, acromegaly, prolactinoma, large cell calcifying Sertoli cell tumour in males, and thyroid nodules and carcinomas. Here, we report a new case in whom the diagnosis was obscured by complicating presentations.A female patient, presented with seizure like attacks at ...

Sporadic Medullary thyroid carcinoma (MTC) is an uncommon thyroid cancer. The prevalence has been studied in two large European studies(1,2). Serum calcitonin provides a highly sensitive and specific tumour marker for this. We shall present a case which typifies the presentation of MTC and discuss its relevance.A 71-year-old gentleman of Italian descent was admitted in 2001 with left lower limb cellulitis. It was documented that he had an incidental goitre, that had been p...

A 36 year old lady presented with a 6 month history of amenorrhoea & increasing fatigue. There was no background of headaches or visual disturbance. She denied thyroid related symptoms. Examination revealed her to be both pale and fatigued however there were no other significant findings. Investigations revealed: random cortisol 56 nmol/l; prolactin 1698mU/l (0-480); LH 0.3U/l; FSH 2.9U/l; fT4 <5pmol/l (10-24); TSH 21.92mU/l (0.4-4.0); IGF1 12.5nmol/l (10-24) An insulin...

A nineteen-year-old primiparous lady was admitted in her 40th week of gestation with irregular painful contractions. Following a prolonged labour (approx. eighteen hours) she underwent an emergency caesarean section because of decelerations in the foetal heartbeat and meconium staining of her liquor. At a vaginal examination performed pre caesarean to assess the state of her cervix, her clitoris was noted to be enlarged. She delivered a healthy girl who was not virilised. Befo...

A 22 year old student sought medical attention with a month's complaint of intermittent tingling and spasms in his hands and in the last week more difficulty with phonation. He had previously been fit and active except in his neonatal period. He was a 6 weeks premature 'blue baby' and was transfused 6 times in his first week of life and received anti-D antibodies. He had mild asthma from age 2 but this no longer troubles him. He had been an otherwise fit student playing footba...

A 20 years old primigravida 11weeks pregnant presented with increasing neck size, having noticed some neck swelling 4 years previously. There was no history of dysphagia or stridor. Apart of mild asthma she was well with no significant past medical or family history. TSH was normal at the time she was referred by the GP to the endocrine clinic. On examination she had a smooth thyroid swelling but no cervical lymphadenopathy. Further thyroid function tests confirmed a normal TS...

A 91year-old woman was admitted after collapsing at home. She was an ex-smoker with history of chronic obstructive airway disease (COAD), atrial fibrillation , osteoporosis and colonic polyps. On examination, she had clinical signs of chest infection with normal blood pressure and no significant postural drop .Blood glucose was 2.6 millimoles pre litre on admission. Further serial plasma glucose estimations revealed persistant fasting hypoglycaemia( 1.9 to 2.6 millimoles per l...

An 85 year old woman presented with generalised fatigue.Clinical examination was unremarkable but her biochemistry showed low sodium level of 112 millimoles per litre ( NR : 135-145 ).Investigations were suggestive of Syndrome of Inappropriate Antidiuretic Hormone Secretion ( SIADH ) with low serum osmolality , high urine osmolality and high urinary sodium .Further investigations were normal including renal function , short synacthen test , chest x-ray and CT scan of t...