Case Report: Rosai-Dorfman Disease Involving Sellar Region in a Pediatric Patient: A Case Report and Systematic Review of Literature

Rosai-Dorfman disease (RDD) is an extremely rare histiocytic disorder characterized by cervical lymphadenopathy, while the involvement of sellar region is less observed. Here we report a pediatric patient who was initially suspected as sellar germinoma but later identified as RDD. We also conducted a systematic review about RDD involving sellar region. A total of only 14 cases were included and analyzed in our study in terms of clinical presentation, endocrine abnormality, radiological features, pathology, treatment, and follow up. The most common neurological manifestations of sellar RDD is diabetes insipidus and visual changes. Two typical kinds of MRI manifestations were presented in sellar RDD; one is like meningioma-like mass lesions, another showing infiltrative pattern that demonstrates hyperintense areas on T2WI. Currently, the treatment of RDD is tailored to the individual clinical circumstances. For sellar RDD, surgical treatment can be considered to completely remove or debulk the tumor.

SAT-LB117 POEMS Syndrome: Rare Presentation of New Onset Diabetes Mellitus

Background: POEMS syndrome (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal protein, Skin changes) is characterized by the presence of a monoclonal plasma cell disorder, peripheral neuropathy, and one or more of the following features: osteosclerotic myeloma, Castleman disease, increased levels of serum vascular endothelial growth factor (VEGF), organomegaly, endocrinopathy, edema, typical skin changes, and papilledema. Clinical Case: 45 year old male with no chronic medical issues presented initially to the orthopedic clinic with right hip pain, pelvic MRI showed a right iliac crest lesion. CT Guided biopsy was done and showed plasmacytoma. SPEP showed elevated IgG lambda level in the gamma zone. In the meantime he was complaining of ascending numbness and weakness in hands and feet and he progressively became wheelchair bound. During his treatment and follow ups with Hematology/Oncology he was noted to have elevated blood sugars in the 500s. Hemoglobin A1C was elevated at 9.5 which confirmed the diagnosis of new onset diabetes. He was also noted to have splenomegaly which confirmed the diagnosis of POEMS syndrome. He was started on insulin and he managed to achieve good diabetes control with insulin and dietary changes. He is currently status post stem cell transplantation with a good response and the weakness and polyneuropathy improved with PT and OT. POEMS syndrome has major and minor criteria for diagnosis, mandatory major criteria includes polyneuropathy, monoclonal plasma cell proliferative disorder (almost always lambda). Additional major criteria are sclerotic bone disease, castleman disease, elevated VEGF. Minor criteria are organomegaly, extravascular volume load, endocrinopathy, and skin changes. In order to diagnose the syndrome, mandatory major criteria, and one major and one minor criteria need to be clinically present. Endocrinopathy includes the adrenal, pituitary, thyroid, gonadal, parathyroid, and pancreatic glands. Two-thirds of patients had at least one endocrine abnormality at presentation. Endocrine abnormalities can also develop later, during the course of the disease. Hypogonadism is the most common endocrine abnormality. Elevated levels of follicle stimulating hormone in the absence of primary hypogonadism levels have been reported, hence history and physical examination is crucial to detect the development of endocrinopathies in POEMS syndrome. There are no current guidelines or recommendations about the frequency of screening for endocrinopathies but it is suggested to obtain a baseline of thyroid function test, pituitary, gonadal, and adrenal axis. In addition to baseline parathyroid hormone level, close monitoring of calcium and blood glucose levels once the diagnosis is confirmed in patients with suggestive symptoms. Conclusion: POEMS syndrome is a rare condition that involves multiple endocrine organs, currently there are no guidelines or recommendations to obtain baseline endocrine labs once the diagnosis is confirmed, but it might be appropriate if there is a high clinical suspicion. References: 1. Castillo JJ (2016). “Plasma Cell Disorders”. Primary Care.43(4): 677-691. doi:10.1016/j.pop.2016.07.002. PMID 27866585. 2. Warsame R, Yanamandra U, Kapoor P (2017). “POEMS Syndrome: an Enigma”. Current Hematologic Malignancy Reports.12(2): 85-95. doi:10.1007/s11899-017-0367-0. PMID 28299525. 3. Dispenzieri A (2017). “POEMS syndrome: 2017 Update on diagnosis, risk stratification, and management”. American Journal of Hematology.92(8): 814-829. doi:10.1002/ajh.24802. PMID 28699668. 4. Kaushik M, Pulido JS, Abreu R, Amselem L, Dispenzieri A (2011). “Ocular findings in patients with polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes syndrome”. Ophthalmology.118(4): 778-82. doi:10.1016/j.ophtha.2010.08.013. PMID 21035860.

Ovarian disorders

Ovarian disorders are very common. Involuntary infertility affects an estimated 15% of couples and disorders of ovulation account for 25–30% of the causes of infertility. In most cases, disorders of ovulation are attributable to a treatable, endocrine abnormality. Indeed, polycystic ovary syndrome, a major contributor to endocrine-related infertility, is the commonest endocrine disorder in women, with a prevalence in excess of 5% in the female population of reproductive age. Disorders of ovarian function usually manifest themselves as irregular, infrequent, or absent menses. Hirsutism, or excess, male-pattern body hair is another common manifestation of ovarian (and, less often adrenal) dysfunction. In this chapter, ovarian development, the physiology of the hypothalamic–pituitary–gonadal axis, and the hormonal changes of the normal menstrual cycle will be described as a preface to the description of disorders of ovulation, their investigation, and management. The causes, investigation, and management of hirsutism will also be elucidated.

Hyperprolactinaemia in a patient with kidney failure

Hyperprolactinaemia is a common endocrine abnormality in patients with kidney failure. A 43-year-old female, known with kidney failure on maintenance haemodialysis, was referred with symptomatic hyperprolactinaemia. Biochemical investigations revealed a markedly elevated serum prolactin level. Magnetic resonance imaging of the brain (without gadolinium) demonstrated a pituitary macroadenoma. The patient was started on cabergoline therapy. This case discusses hyperprolactinaemia in kidney failure and highlights the importance of investigating markedly elevated prolactin levels. In cases where patients have galactorrhoea, headaches and/or visual disturbances, clinicians should be alert to the possibility of a prolactin-secreting pituitary tumour.

Hirsutism, Acne, and Hair Loss: Management of Hyperandrogenic Cutaneous Manifestations of Polycystic Ovary Syndrome

<p>PPolycystic ovary syndrome is the most common endocrine abnormality that affects reproductive-aged women. Diagnostic criteria of polycystic ovary syndrome have been established by different societies in recent years, and hyperandrogenism remains as one of the main criteria for diagnosis. Cutaneous manifestations of hyperandrogenism include hirsutism, acne and androgenic alopecia and are commonly observed in women with polycystic ovary syndrome. The major determinants of cutaneous manifestations are increased production of androgen and increased tissue availability. Cutaneous manifestations of hyperandrogenism are cosmetic problems, which produce significant emotional distress and psychological morbidity. Treatment includes a combination of combined oral contraceptives, antiandrogens, insulin sensitizers, gonadotropin releasing hormone agonists, topical medications, and cosmetic procedures. The diagnosis, management, and treatment approaches are described in detail in this review.</p>

FRIEDREICH ATAXIA – A CASE REPORT

Friedreich ataxia is an autosomal recessive disorder, due to expansion of trinucleotide repeat in Frataxin gene which presents with ataxic gait, absent tendon reflexes, extensor plantar response and positive Romberg test. We present a child who came with complaints of progressive ataxia of gait since the age of 10 years and was diagnosed to have Friedreich ataxia. They have associated cardiomyopathy and endocrine abnormality like diabetes and hypothyroidism.

Role of genetic and environmental factors in the development of polycystic ovary syndrome

Polycystic ovary syndrome is the most common heterogeneous endocrine abnormality in women in the reproductive age. The syndrome remains an enigmatic disorder because the aetiology is still unclear. Familial aggreagation is relatively common among patients with polycystic ovary syndrome suggesting a significant genetic component, although the way of inheritance has not been established firmly. The authors review the relevant medical literature and suggest that genetic and environmental factors play a role in the development of polycystic ovary syndrome. To date, no gene has been identified that causes or contributes substantially to the development of a polycystic ovary syndrome phenotype. Polycystic ovarian syndrome is considered to be an oligogenic disorder in which the interaction of a number of genetic and environmental factors determines the heterogeneous clinical and biochemical phenotype. To summarize current evidence the authors conclude, that when we are able to identify and then modify environmental determinants, then we will be able to safeguard better the health of those patients who are predisposed to disease development due to genotype or previous environmental effects. Orv. Hetil., 2013, 154, 650–657.

SUBCLINICAL HYPOTHYROIDISM;

Chronic kidney disease (CKD) is characterized by progressive destruction of renal mass with irreversible sclerosis andloss of nephrons.Various metabolic, hematological and endocrine abnormalities are known to occur in CKD. Subclinical hypothyroidismis an important endocrine abnormality associated with a greater cardiovascular risk, atherosclerosis and an important factor forprogression of renal disease in such patients. Objective: To calculate the frequency of subclinical hypothyroidism in predialysis CKDpatients. Design: Cross sectional survey. Setting: Pathology Department Post Graduate Medical Institute, Lahore. Period: 06 months(June 2011 to Dec 2011). Results: 210 patients were included in the study. Serum creatinine. TSH and FT4 were measured and therelevant data was entered in predesigned proforma. 19.5 % of CKD population had subclinical hypothyroidism with slightly increasedpreponderance in females as compared to males and also increased frequency as the stage of CKD increased. Subclinicalhypothyroidism is more common in CKD population. Conclusions: Increased frequency of subclinical hypothyroidism was found inpatients with reduced renal function not on dialysis. 19.5% of CKD population on conservative management had labortary evidence ofthyroid dysfunction.