IntroductionPituitary stalk interruption syndrome is a rare congenital abnormality of the pituitary that is responsible for anterior pituitary deficiency. It is characterized by a classic triad of interrupted pituitary stalk, absent or ectopic posterior pituitary, and anterior pituitary hypoplasia or aplasia. Clinical presentation varies according to age. In adults it presents as short stature and anterior pituitary deficiency. Without early diagnosis and treatment, mortality and morbidity in these patients is high. Early diagnosis and treatment of this rare disease can prevent permanent short statue of the patient. We report the first case of pituitary stalk interruption syndrome from Pakistan.Case presentationA 17-year-old Pakistani young man presented with short stature and underdeveloped secondary sexual characters. His siblings and parents were healthy, with normal height. An examination showed his blood pressure was 90/60mmHg, and his height, weight, and body mass index were 142cm, 34.5kg, and 17.10kg/m2, respectively. He had no hair growth on his face, axilla, or pubis. His testes were between 1 and 2mL in size, with a 4cm-at-stretch micropenis. His lab investigations showed that his thyroid stimulating hormone (TSH) was 8.58uIU/mL (0.4 to 4.2), his free thyroid hormone level FT4 was 0.46ng/dL (0.89 to 1.76), his prolactin was 21.1ng/mL (3.0 to 14.7), and his baseline cortisol was 0.30ug/dL (4.3 to 22.4). His cortisol level after 60 minutes of cosyntropin injection was 3.5ug/dL (4.3 to 22.4), his insulin like growth factor IGF-1 was 31.56ng/mL (247.3 to 481.7), his testosterone level was under 2.5ng/dL (2 to 800), his follicle stimulating hormone FSH was 0.41uIU/mL (0.0 to 10.0), and his leutinizing hormone LH was under 0.1uIU/mL (1.2 to 7.8). His bone age was 10 years according to the Greulich and Pyle method, as shown by X-rays. The results from his pituitary magnetic resonance imaging scan were consistent with pituitary stalk interruption syndrome.ConclusionsWe describe a young man who presented with short stature and was found to have pituitary stalk interruption syndrome. Despite the fact that this is a rare disorder, it should always be kept in the differential diagnosis of a patient presenting with short stature. Patients with this disease have an excellent opportunity to reach normal height if they present before the joining of epiphyses.
Background. About 90% of thyroid cancers are differentiated thyroid cancers. Standard treatment is total thyroidectomy followed by radioactive I131remnant ablation and TSH suppression with thyroxine. Unsuccessful ablation drastically affects the prognosis of patients with DTC particularly high risk individuals; therefore, identifying the factors that affect the success of ablation is important in the management of patients with DTC. sTg is a good predictor of successful ablation in DTC. Its levels can be influenced by tumor staging and TSH values, as well as other factors. Therefore, we did this study using TSH to correct the predictive value of sTg in success of RRA. Methods. We retrospectively reviewed the records of 75 patients with DTC, who underwent total thyroidectomy followed by RRA and TSH suppression. Results. Preablation sTg and sTg/TSH ratio are significantly associated with ablation outcome. Cutoff value for sTg to predict successful and unsuccessful ablation was 18 ng/mL with 76.7% sensitivity and 79.1% specificity, while for sTg/TSH cutoff was 0.35 with 81.4% sensitivity and 81.5% specificity (P < 0.001). Association was stronger for sTg/TSH ratio with adjusted odds ratio (AOR) 11.64 (2.43–55.61) than for sTg with AOR 5.42 (1.18–24.88). Conclusions. Preablation sTg/TSH ratio can be considered as better predictor of ablation outcome than sTg, tumor size, and capsular invasion.
BackgroundSorafenib can be considered as the effective option of treatment in patients with metastatic radioiodine refractory differentiated thyroid cancers. The cutaneous manifestations of Sorafenib include rash, desquamation, hand foot skin reactions, pruritus, alopecia and erythema. We report the first case of hypopigmentation related to sorafenib therapy.Case presentationWe report the case of a middle aged gentleman with metastatic papillary carcinoma of thyroid diagnosed in 2005. He was managed with total thyroidectomy, radioactive iodine and TSH suppressive therapy. Despite receiving radioactive iodine 530 mci cumulative dose, patient had persistant disease with lung metastasis. Therefore a TKI, sorafenib, was started. He developed hypopigmentation of the skin more prominent on face six weeks after starting sorafenib treatment.He also developed diarrhea, desquamation of hands and feet, hair loss over scalp, eye brows and moustache. Sorafenib treatment was discontinued. His diarrhea stopped in one week and after four weeks his skin became normalized whereas he regained his hairs in six weeks.ConclusionTo our knowledge, hypopigmentation in our patient appears to be the first reported of its kind in the literature to date. Sorafenib is used in Renal cell carcinoma, Hepatcellular carcinoma and radioactive iodine refractory thyroid carcinoma therefore it is very important to be aware of hypopigmentation as a potential side effect for both physicians and patients.
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