Search Results

You are looking at 1 - 10 of 62 items for :

Clear All
Open access

Shweta Birla, Sameer Aggarwal, Arundhati Sharma and Nikhil Tandon

Summary

Carney complex (CNC) is a rare autosomal dominant syndrome characterized by pigmented lesions of the skin and mucosae along with cardiac, endocrine, cutaneous, and neural myxomatous tumors. Mutations in the PRKAR1A gene have been identified in ∼70% of the CNC cases reported worldwide. A 30-year-old male was referred to the endocrinology clinic with suspected acromegaly. He had a history of recurrent atrial myxoma for the past 8 years for which he underwent repeated surgeries. Presently, he complained of having headache, excessive snoring, sweating, and also noticed increase in his shoe size. Evaluation for acromegaly revealed elevated levels of GH in random as well as in suppressed condition. Magnetic resonance imaging scan revealed enlarged sella with microadenoma in the left anterior pituitary. Screening of PRKAR1A gene was carried out for the patient, his parents and siblings who were available and willing to undergo the test. The patient was diagnosed to have the rare CNC syndrome characterized by recurrent atrial myxoma and acromegaly due to a novel 22 bp insertion mutation in PRKAR1A which was predicted to be deleterious by in silico analysis. Screening the available family members revealed the absence of this mutation in them except the elder brother who also tested positive for this mutation. The present study reports on a novel PRKAR1A insertion mutation in a patient with acromegaly and left atrial myxoma in CNC.

Learning points

  • Identification of a novel deleterious PRKAR1A insertion mutation causing CNC.
  • It is important that patients with cardiac myxoma be investigated for presence of endocrine overactivity suggestive of CNC.
  • PRKAR1A mutation analysis should be undertaken in such cases to confirm the diagnosis in the patients as well as first degree relatives.
  • This case highlights an important aspect of diagnosis, clinical course, and management of this rare condition.

Open access

Ana Coelho Gomes, José Maria Aragüés, Sílvia Guerra, Joana Fernandes and Mário Rui Mascarenhas

Summary

Hypogonadotropic hypogonadism (HH) is common and occurs prematurely in HIV-infected men. However, HH with very low testosterone has not been described. Three men with normal pubertal development and HIV1 diagnosis at the ages of 22, 34 and 35 years. All complained of decreased libido, anejaculation and erectile dysfunction thirteen years, six months and one year after HIV diagnosis, respectively. Two had depressive syndrome and two were treated with antiretroviral therapy. Laboratory tests revealed isolated HH in all. Sellar and head CT scans were normal and all had normal CD4 count. They started testosterone replacement therapy, with symptoms improvement. Causes of HH in HIV-infected men include undernutrition, severe illness, drugs, pituitary dysfunction and comorbidities. Despite having none of these conditions (except two that were treated with low-dose psychotropics), our patients had HH with uncommonly low testosterone. This suggests that a different mechanism contributes to severe HH in HIV-infected men.

Learning points:

  • The pathogenesis of hypogonadotropic hypogonadism in HIV-infected men is multifactorial and androgen deficiency is more often a consequence of secondary hypogonadism than primary hypogonadism.
  • Causes of hypogonadotropic hypogonadism in HIV-infected men include undernutrition, severe illness, drugs (psychotropics, opiates, megestrol acetate or steroids), pituitary dysfunction (tumor, hyperprolactinemia), an AIDS-related lesion (very rarely) and comorbid conditions, such as antibody to hepatitis C virus seropositivity and injection drug use.
  • Highly active antiretroviral therapy (HAART), particularly protease inhibitor therapy has been associated with sexual dysfunction in men, but the causal nature of this relation has not been clearly established.
  • Hypogonadotropic hypogonadism with uncommonly low testosterone levels are not usually associated with the conditions referred and this suggests that a different mechanism could contribute to severe hypogonadotropic hypogonadism in HIV-infected men.
  • Screening for hypogonadism in all HIV-infected men might help to understand its etiology.
Open access

R Casey, S Prendeville, C Joyce and D O'Halloran

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.

Open access

Alex González Bóssolo, Michelle Mangual Garcia, Paula Jeffs González, Miosotis Garcia, Guillermo Villarmarzo and Jose Hernán Martinez

Summary

Classical papillary thyroid microcarcinoma (PTMC) is a variant of papillary thyroid carcinoma (PTC) known to have excellent prognosis. It has a mortality of 0.3%, even in the presence of distance metastasis. The latest American Thyroid Association guidelines state that although lobectomy is acceptable, active surveillance can be considered in the appropriate setting. We present the case of a 37-year-old female with a history of PTMC who underwent surgical management consisting of a total thyroidectomy. Although she has remained disease-free, her quality of life has been greatly affected by the sequelae of this procedure. This case serves as an excellent example of how first-line surgical treatment may result more harmful than the disease itself.

Learning points:

  • Papillary thyroid microcarcinoma (PTMC) has an excellent prognosis with a mortality of less than 1% even with the presence of distant metastases.
  • Active surveillance is a reasonable management approach for appropriately selected patients.
  • Patients should be thoroughly oriented about the risks and benefits of active surveillance vs immediate surgical treatment. This discussion should include the sequelae of surgery and potential impact on quality of life, especially in the younger population.
  • More studies are needed for stratification of PTMC behavior to determine if conservative management is adequate for all patients with this specific disease variant.
Open access

Jayshree Swain, Shruti Sharma, Ved Prakash, N K Agrawal and S K Singh

Summary

Ovarian steroid cell tumors are very rare functioning sex-cord stromal tumors. They comprise <0.1% of all ovarian tumors. Previously designated as lipoid cell tumors, one-third of these tumors are considered malignant with the mean age of presentation at around 40 years. We present a case of a 28-year-old female with 2-year history of hirsutism, virilization, and amenorrhea. She was diagnosed with left ovarian tumor, for which she underwent left salpingo-oophorectomy. Histopathology revealed not otherwise specified subtype of steroid cell tumors. The patient resumed menses 2 months after the features of masculinization regressed. Within 1 year of surgery, the patient successfully conceived a full-term baby without any complications. In a young female, the neoplastic etiology of a rapid virilization or menses changing should always be kept in mind. Though commonly observed in adult females, steroid cell tumors have very good surgical outcomes if age at presentation is less and tumor is unilateral, and there are no evidences of bilateral malignancy. Bilateral salpingo-oophorectomy is not required.

Learning points

  • In a case of severe rapid hirsutism and virilization with serum testosterone level more than 200 ng/dl or more than threefold of the normal range, neoplastic conditions should always be suspected.
  • Steroid cell tumor in young women without evidence of malignancy on histopathology has excellent surgical outcomes.
  • Unilateral salpingo-oophorectomy is the surgery of choice.
  • As the frequency of bilateralism is only 6%, prophylactic unaffected side oophorectomy need not be done.

Open access

Dominic Cavlan, Shanti Vijayaraghavan, Susan Gelding and William Drake

Summary

A state of insulin resistance is common to the clinical conditions of both chronic growth hormone (GH) deficiency and GH excess (acromegaly). GH has a physiological role in glucose metabolism in the acute settings of fast and exercise and is the only anabolic hormone secreted in the fasting state. We report the case of a patient in whom knowledge of this aspect of GH physiology was vital to her care. A woman with well-controlled type 1 diabetes mellitus who developed hypopituitarism following the birth of her first child required GH replacement therapy. Hours after the first dose, she developed a rapid metabolic deterioration and awoke with hyperglycaemia and ketonuria. She adjusted her insulin dose accordingly, but the pattern was repeated with each subsequent increase in her dose. Acute GH-induced lipolysis results in an abundance of free fatty acids (FFA); these directly inhibit glucose uptake into muscle, and this can lead to hyperglycaemia. This glucose–fatty acid cycle was first described by Randle et al. in 1963; it is a nutrient-mediated fine control that allows oxidative muscle to switch between glucose and fatty acids as fuel, depending on their availability. We describe the mechanism in detail.

Learning points

  • There is a complex interplay between GH and insulin resistance: chronically, both GH excess and deficiency lead to insulin resistance, but there is also an acute mechanism that is less well appreciated by clinicians.
  • GH activates hormone-sensitive lipase to release FFA into the circulation; these may inhibit the uptake of glucose leading to hyperglycaemia and ketosis in the type 1 diabetic patient.
  • The Randle cycle, or glucose–fatty acid cycle, outlines the mechanism for this acute relationship.
  • Monitoring the adequacy of GH replacement in patients with type 1 diabetes is difficult, with IGF1 an unreliable marker.

Open access

P Hanson, M Pandit, V Menon, S Roberts and T M Barber

Summary

The case is a 34-year-old woman with long-standing type 1 diabetes mellitus with existing follow-up in the outpatient clinic at the Warwickshire Institute for the Study of Diabetes, Endocrinology and Metabolism, UHCW. She had maintained good glycaemic control and glycaemic stability with basal bolus regimen for many years. She had not developed any diabetes-related complications and had no other co-morbidities. Six months ago, she presented to A&E with sudden-onset, well-localised and severe pain in the right iliac fossa, just lateral to the para-umbilical area. Her biochemistry was normal. Ultrasound scan, however, revealed a right-sided ovarian cyst, which was thought to have caused pain to her. She was discharged from A&E with simple analgesia. On subsequent gynaecological follow-up 4 weeks later, her pain remained severe and examination revealed an exquisitely tender subcutaneous nodule at the same location measuring 2 cm in diameter. Magnetic resonance imaging (MRI) scan at the time revealed a 1 cm mass in the subcutaneous adipose tissue, which co-localised to her pain. The mass demonstrated a central fat signal surrounded by a peripheral ring: observations consistent with fat necrosis. There were other smaller subcutaneous nodules also observed in the left para-umbilical area. Subsequent surgical resection of the main area of fat necrosis was performed. The patient made an excellent recovery and her pain resolved post-operatively. Histology confirmed the presence of fat necrosis. Fat necrosis is a rare complication of s.c. insulin injection. This case illustrates the importance of considering this diagnosis in patients who inject insulin and develop localised injection-site pain.

Learning points

  • Fat necrosis is a rare complication of insulin injections that can manifest with severe, persistent and well-localised pain.
  • Fat necrosis can masquerade as other pathologies causing diagnostic confusion.
  • The imaging modality of choice for accurate diagnosis of fat necrosis is MRI.
  • Histological confirmation of fat necrosis is important.
  • Appropriate management of localised fat necrosis is surgical excision, with avoidance of further insulin injections into the affected area.

Open access

Khaled Aljenaee, Sulaiman Ali, Seong Keat Cheah, Owen MacEneaney, Niall Mulligan, Neil Hickey, Tommy Kyaw Tun, Seamus Sreenan and John H McDermott

Markedly elevated androgen levels can lead to clinical virilization in females. Clinical features of virilization in a female patient, in association with biochemical hyperandrogenism, should prompt a search for an androgen-producing tumor, especially of ovarian or adrenal origin. We herein report the case of a 60-year-old woman of Pakistani origin who presented with the incidental finding of male pattern baldness and hirsutism. Her serum testosterone level was markedly elevated at 21 nmol/L (normal range: 0.4–1.7 nmol/L), while her DHEAS level was normal, indicating a likely ovarian source of her elevated testosterone. Subsequently, a CT abdomen-pelvis was performed, which revealed a bulky right ovary, confirmed on MRI of the pelvis as an enlarged right ovary, measuring 2.9 × 2.2 cm transaxially. A laparoscopic bilateral salpingo-oophorectomy was performed, and histopathological examination and immunohistochemistry confirmed the diagnosis of a Leydig cell tumor, a rare tumor accounting for 0.1% of ovarian tumors. Surgical resection led to normalization of testosterone levels.

Learning points:

  • Hirsutism in postmenopausal women should trigger suspicion of androgen-secreting tumor
  • Extremely elevated testosterone level plus normal DHEAS level point toward ovarian source
  • Leydig cell tumor is extremely rare cause of hyperandrogenicity
Open access

Maryam Rahman, Ignacio Jusué-Torres, Abdulrahman Alkabbani, Roberto Salvatori, Fausto J Rodríguez and Alfredo Quinones-Hinojosa

Summary

Pituitary adenomas are usually solitary lesions. Rarely, patients may present with two distinct pituitary tumors. We report a case of synchronous secretory pituitary adenomas in a woman who initially presented with elevated prolactin levels. She was initially treated with cabergoline, but, after many years, she began developing symptoms consistent with acromegaly. Imaging revealed two distinct tumors within the pituitary gland. Endocrinological investigation confirmed acromegaly. At the time of surgery, two separate tumors were identified and resected. Pathological analysis demonstrated one tumor as a prolactinoma, and the other tumor as a GH-secreting adenoma. Postoperatively, her GH and IGF1 levels normalized, while the prolactin level remained slightly above normal. This case highlights that GH and prolactin level elevation is not always from co-secretion by the same adenoma.

Learning points

  • Synchronous pituitary adenomas represent <0.5% of pituitary tumors requiring surgery.
  • In the setting of elevated GH and prolactin levels, one cannot assume that they are co-secreted by the same adenoma.
  • A careful study of hormonal workup and pre-operative imaging is necessary for synchronous pituitary adenomas to assure resection of both tumors.

Open access

L I Astaf’eva, Y G Sidneva, B A Kadashev, P L Kalinin, G A Melnichenko and S A Agadzhanian

Summary

A 32-year-old woman presented with primary amenorrhoea, prolactin (PRL) level of 154 150 mIU/L and was diagnosed with a giant pituitary adenoma measuring maximum 6.2 cm. Cabergoline (CAB) treatment at a dose of 0.5 mg/week was prescribed to the patient. The treatment decreased the tumour size after 3 months (MRI scans of the brain) and brought back to normal the level of the PRL (345 mIU/L) after 6 months of CAB treatment. After 7 months of CAB treatment, menarche was achieved, and after 12 months, the patient became pregnant. She discontinued taking CAB at 4-week gestation. The pregnancy resulted in a missed miscarriage at 6–7 weeks; an abortion was conducted by the vacuum aspiration method. The MRI scans of the brain did not show any tumour enlargement. After 18 months from the start of the treatment the patient got pregnant for the second time. At 25-week gestation an MRI scan of the brain was conducted which did not show any increase in the tumour size. At 38 weeks the patient delivered a healthy full-term girl via C-section. The patient chose not to breastfeed and resumed CAB therapy after the delivery. During the treatment, the PRL level returned to the normal range and the menstrual cycle was restored. After 3 years the patient got pregnant for the third time. The patient did not receive CAB during the pregnancies; the examination did not show any tumour enlargement. Further MRI scans did not show any tumour growth. CAB therapy was effective in normalization of the PRL level, tumour shrinkage, menarche and pregnancy-induction which led to the birth of healthy children in a woman with primary amenorrhoea and a giant prolactinoma invading the skull base bones.

Learning points:

  • Giant prolactinomas are very rarely found in women.
  • Cabergoline therapy can be effective in the normalization of the PRL level, tumour shrinkage, menarche induction in a woman with primary amenorrhoea, and giant prolactinoma.
  • Cabergoline therapy can be effective in pregnancy induction which leads to the birth of children in a woman with giant prolactinoma.
  • Cabergoline discontinuation did not trigger tumour enlargement during pregnancy.