Patient Demographics > Ethnicity > Asian - Bangladeshi
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Summary
Gonadotroph adenomas are the most common type of nonfunctional pituitary adenomas. However, functioning gonadotroph adenomas causing clinical manifestations are rare. We present the case of a 42-year-old man with an incidental finding of a pituitary gland mass. A pituitary MRI revealed a 3 cm macroadenoma, and laboratory investigations revealed elevated follicle-stimulating hormone (FSH) and total testosterone levels. A diagnosis of functioning FSH-secreting pituitary adenoma was considered, with possible concomitant luteinizing hormone secretion, given the elevated testosterone, prompting further evaluation. Testicular ultrasound showed bilaterally enlarged testicles, and visual field testing revealed a monocular superior temporal defect. Transsphenoidal resection of pituitary adenoma was the treatment of choice. Histopathology assessment confirmed the diagnosis of gonadotroph-secreting adenoma, with positive staining for FSH. Within the 12-week postoperative period, FSH and testosterone levels normalized, and the patient experienced significant improvement in vision, along with the resolution of macroorchidism. While functional gonadotroph adenomas are rare, patients can present with a wide range of symptoms that are often unnoticeable due to their slow development. Careful evaluation can help guide multidisciplinary management to achieve full remission.
Learning points
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Endocrine evaluation is indicated in all cases of pituitary incidentalomas to determine functional status.
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Clinically functioning gonadotroph adenomas, while rare, pose a diagnostic challenge and require careful clinical evaluation.
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Transsphenoidal surgery is the mainstay of treatment of functioning gonadotroph adenomas, with the involvement of a multidisciplinary team to achieve desirable outcomes.
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Search for other papers by Michael Tamilia in
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Summary
Fever of unknown origin is a commonly encountered medical problem. Most common causes include infections, malignancy, and connective tissue diseases. Endocrine causes are rare but are well documented. While fever is common in some endocrine disorders, fever of unknown origin as the sole presenting feature is very rare. We describe a case report of a 63-year-old male who presents with fever of unknown origin. Imaging and biopsy results confirmed the diagnosis of subacute thyroiditis. He was started on prednisone with a good response. We conclude that subacute thyroiditis should be considered in the work up of fever of unknown origin even in the absence of classical signs and symptoms.
Learning points:
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Fever of unknown origin is a rare sole presentation of subacute thyroiditis.
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The classic signs and symptoms may not be manifest at the time of presentation.
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Normal thyroid function tests and elevated markers of inflammation often make infections, malignancy and autoinflammatory conditions the prime consideration.
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Imaging of the thyroid gland may point to a morphologic aberration and prompt a thyroid biopsy.
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After exclusion of infection, a rapid response to steroids may be both diagnostic and therapeutic.
Search for other papers by Sharmin Jahan in
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Search for other papers by Md Fariduddin in
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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:
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Pituitary NFA commonly present with compressive symptoms such as headache and blurred vision.
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Post-surgical development of Cushing syndrome in such a case could be either drug induced or endogenous.
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In the presence of recurrent pituitary tumor, ACTH-dependent Cushing syndrome indicates CD.
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Rarely a SCA presenting initially as NFA can transform into an active corticotroph adenoma.
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Immunohistochemical marker for ACTH in the resected tumor confirms the diagnosis.
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Search for other papers by Scott A Akker in
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Summary
Mineralocorticoid hypertension is most often caused by autonomous overproduction of aldosterone, but excess of other mineralocorticoid precursors can lead to a similar presentation. 11-Deoxycorticosterone (DOC) excess, which can occur in 11-β hydroxylase or 17-α hydroxylase deficiencies, in DOC-producing adrenocortical tumours or in patients taking 11-β hydroxylase inhibitors, may cause mineralocorticoid hypertension. We report a 35-year-old woman who in the third trimester of pregnancy was found to have a large adrenal mass on routine obstetric ultrasound. On referral to our unit, persistent hypertension and long-standing hypokalaemia was noted, despite good compliance with multiple antihypertensives. Ten years earlier, she had hypertension noted in pregnancy which had persisted after delivery. A MRI scan confirmed the presence of a 12 cm adrenal mass and biochemistry revealed high levels of DOC and low/normal renin, aldosterone and dehydroepiandrosterone, with normal catecholamine levels. The patient was treated with antihypertensives until obstetric delivery, following which she underwent an adrenalectomy. Histology confirmed a large adrenal cortical neoplasm of uncertain malignant potential. Postoperatively, blood pressure and serum potassium normalised, and the antihypertensive medication was stopped. Over 10 years of follow-up, she remains asymptomatic with normal DOC measurements. This case should alert clinicians to the possibility of a diagnosis of a DOC-producing adrenal tumours in patients with adrenal nodules and apparent mineralocorticoid hypertension in the presence of low or normal levels of aldosterone. The associated diagnostic and management challenges are discussed.
Learning points:
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Hypermineralocorticoidism is characterised by hypertension, volume expansion and hypokalaemic alkalosis and is most commonly due to overproduction of aldosterone. However, excess of other mineralocorticoid products, such as DOC, lead to the same syndrome but with normal or low aldosterone levels.
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The differential diagnosis of resistant hypertension with low renin and low/normal aldosterone includes congenital adrenal hyperplasia, syndrome of apparent mineralocorticoid excess, Cushing’s syndrome, Liddle’s syndrome and 11-deoxycorticosterone-producing tumours.
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DOC is one intermediate product in the mineralocorticoid synthesis with weaker activity than aldosterone. However, marked DOC excess seen in 11-β hydroxylase or 17-α hydroxylase deficiencies in DOC-producing adrenocortical tumours or in patients taking 11-β hydroxylase inhibitors, may cause mineralocorticoid hypertension.
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Excessive production of DOC in adrenocortical tumours has been attributed to reduced activity of the enzymes 11-β hydroxylase and 17-α hydroxylase and increased activity of 21-α hydroxylase.
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The diagnosis of DOC-producing adrenal tumours is challenging because of its rarity and poor availability of DOC laboratory assays.
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Search for other papers by Sharmin Jahan in
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Summary
Congenital adrenal hyperplasia (CAH) due to the three-beta-hydroxysteroid-dehydrogenase (3β-HSD) enzyme deficiency is a rare autosomal recessive disorder presenting with sexual precocity in a phenotypic male. Klinefelter syndrome (KS) is the most common sex chromosome aneuploidy presenting with hypergonadotropic hypogonadism in a male. However, only a handful of cases of mosaic KS have been described in the literature. The co-existence of mosaic KS with CAH due to 3β-HSD enzyme deficiency portrays a unique diagnostic paradox where features of gonadal androgen deficiency are masked by simultaneous adrenal androgen excess. Here, we report a 7-year-old phenotypic male boy who, at birth presented with ambiguous genitalia, probably a microphallus with penoscrotal hypospadias. Later on, he developed accelerated growth with advanced bone age, premature pubarche, phallic enlargement and hyperpigmentation. Biochemically, the patient was proven to have CAH due to 3β-HSD deficiency. However, the co-existence of bilateral cryptorchidism made us to consider the possibility of hypogonadism as well, and it was further explained by concurrent existence of mosaic KS (47,XXY/46,XX). He was started on glucocorticoid and mineralocorticoid replacement and underwent right-sided orchidopexy on a later date. He showed significant clinical and biochemical improvement on subsequent follow-up. However, the declining value of serum testosterone was accompanied by rising level of FSH thereby unmasking hypergonadotropic hypogonadism due to mosaic KS. In future, we are planning to place him on androgen replacement as well.
Learning points:
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Ambiguous genitalia with subsequent development of sexual precocity in a phenotypic male points towards some unusual varieties of CAH.
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High level of serum testosterone, adrenal androgen, plasma ACTH and low basal cortisol are proof of CAH, whereas elevated level of 17-OH pregnenolone is biochemical marker of 3β-HSD enzyme deficiency.
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Final diagnosis can be obtained with sequencing of HSD3B2 gene showing various mutations.
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Presence of bilateral cryptorchidism in such a patient may be due to underlying hypogonadism.
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Karyotyping in such patient may rarely show mosaic KS (47,XXY/46,XX) and there might be unmasking of hypergonadotropic hypogonadism resulting from adrenal androgen suppression from glucocorticoid treatment.
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Search for other papers by Khalid Hussain in
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Summary
background: Congenital hyperinsulinism (CHI) is a rare genetic disorder characterised by inappropriate insulin secretion in the face of severe hypoglycaemia. There are two histological subtypes of CHI namely diffuse and focal. Diffuse CHI is most common due to recessive mutations in ABCC8/KCNJ11 (which encode the SUR/KIR6.2 components of the pancreatic β-cell KATP channel) whereas focal CHI is due to a paternally inherited ABCC8/KCNJ11 mutation and somatic loss of heterozygosity for the 11p allele inside the focal lesion. Fluorine-18-l-dihydroxyphenylalanine positron emission tomography/computed tomography (18F-DOPA-PET/CT) is used in the pre-operative localisation of focal lesions prior to surgery. Diffuse CHI if medically unresponsive will require a near total pancreatectomy whereas focal CHI will only require a limited lesionectomy, thus curing the patient from the hypoglycaemia.
Aims: To report the first case of genetically confirmed CHI in Singapore from a heterozygous paternally inherited ABCC8 mutation.
Methods/Results: A term male infant presented with severe hyperinsulinaemic hypoglycaemia (HH) after birth and failed medical treatment with diazoxide and octreotide. Genetic testing (paternally inherited mutation in ABCC8/p.D1472N) suggested focal disease, but due to the unavailability of 18F-DOPA-PET/CT to confirm focal disease, a partial pancreatectomy was performed. Interestingly, histology of the resected pancreatic tissue showed changes typical of diffuse disease.
Conclusion: Heterozygous paternally inherited ABCC8/KCNJ11 mutations can lead to diffuse or focal CHI.
Learning points
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HH is a cause of severe hypoglycaemia in the newborn period.
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Paternal mutations in ABCC8/KCNJ11 can lead to diffuse or focal disease.
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18F-DOPA-PET/CT scan is the current imaging of choice for localising focal lesions.
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Gallium-68 tetra-aza-cyclododecane-N N′N″N-‴-tetra-acetate octreotate PET scan is not a useful imaging tool for localising focal lesions.
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The molecular mechanism by which a heterozygous ABCC8 mutation leads to diffuse disease is currently unclear.
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Focal lesions are curable by lesionectomy and so genetic studies in patients with HH must be followed by imaging using 18F-DOPA-PET/CT scan.
