A Case Reported With 46, XX Testicular Disorders Of Sexual Development And Its Possible Association With Dysembryoplastic Neuroepithelial Tumour.

The main factor determining differentiation of bipotential gonads into testes or ovaries is the presence or absence of SRY (sex-determining region on Y chromosome) gene. De la Chapelle syndrome is a chromosomal anomaly with chromosomal makeup of a female (46, XX) and phenotypic presentation of a male. Previously known as XX sex reversal, it is now called 46, XX testicular disorders of sexual development (DSD). Although rare, it presents as a major chromosomal anomaly, with SRY gene crossover proposed as an underlying aetiology in most patients. We report the case of a 25-year-old male who presented with infertility and was diagnosed with De 46, XX testicular DSD. He has a previous history of resected dysembryoplastic neuroepithelial tumour (DNT). The differential diagnosis of 46, XX DSD and possible association/coincidental finding of DNT have been discussed. Karyotyping should be a part of the workup for every patient who presents with infertility and has azoospermia and hypergonadotropic hypogonadism.

Conversion of autoimmune hypothyroidism to hyperthyroidism.

BACKGROUND: Graves' disease and Hashimoto's thyroiditis are the two autoimmune spectrum of thyroid disease. Cases of conversion from hyperthyroidism to hypothyroidism have been reported but conversion from hypothyroidism to hyperthyroidism is very rare. Although such cases have been reported rarely in the past we are now seeing such conversions from hypothyroidism to hyperthyroidism more frequently in clinical practice. CASE PRESENTATION: We are reporting three cases of middle aged Asian females who presented with classical symptoms of hypothyroidism and the investigations showed elevated thyroid stimulating hormone with positive thyroid antibodies. Diagnosis of autoimmune hypothyroidism was made and thyroxine replacement therapy was initiated. Patients became asymptomatic with normalization of thyroid stimulating hormone level. After few years they developed symptoms of hyperthyroidism with suppressed thyroid stimulating hormone level. Over replacement of thyroxine was considered and the dose of thyroxine was decreased, but they remain symptomatic. After gradual decrease in the dose of thyroxine it was stopped finally. Even after few months of stopping thyroxine, the symptoms of hyperthyroidism did not improve and the biochemical and imaging modalities confirmed that the patients have developed hyperthyroidism. Anti-thyroid treatment was then started and the patients became symptom free. CONCLUSION: High index of suspicion should be there for possible conversion of hypothyroidism to hyperthyroidism if a patient with primary hypothyroidism develops persistent symptoms of hyperthyroidism. Otherwise it can be missed easily considering it as an over replacement with thyroid hormone.

Vitamin D Deficiency in ambulatory patients.

OBJECTIVE: To determine the frequency of subclinical vitamin D deficiency in an ambulatory care setting. METHODS: This was an observational study which measured 25 vitamin D levels in medical clinic patients. Patients with chronic renal failure, known osteomalacia and rickets were excluded. A total of 119 patients were evaluated. They were divided in three diagnostic categories based on their serum 25 vitamin D levels. Those with levels below 8 ng/ml were categorized to have severe deficiency, levels between 8 - 20 ng/ml as moderate deficiency and levels of 21-35 mg/ml as mild deficiency. RESULTS: Of 119 patients, 92% had vitamin D deficiency. Their mean age was 44.3 +/- 18.3 years, with female to male ratio of 5:1. Sixty two percent (62%) had severe, 24% moderate and 8% had mild deficiency. Nearly half of all these patients (including those with severe deficiency) were asymptomatic. Whereas a low serum calcium, elevated phosphate and elevated alkaline phosphatase were reflective of severe deficiency. It was only an elevated iPTH that correlated with mild to moderate deficiency. CONCLUSION: Subclinical vitamin D deficiency is extensive in the adult ambulatory care patients. Serum calcium, phosphate and alkaline phosphatase are poor markers of moderate to mild deficiency. A serum 25 vitamin D level and an iPTH are better biofunctional markers of this deficiency.

Rare among the rarities--recurrent insulinoma.

A patient with recurrent insulinoma without co-existing multiple endocrine neoplasia syndrome is described. In a 32-year-old man with recurrent episodes of symptomatic hypoglycemia, the supervised fast showed high insulin (24.5 IU/ml) and C-peptide level (3.06 ng/ml) with low blood sugar (27 mg/dl). A 1 x 1.5 cm nodule from the lower part of pancreatic body was removed on exploratory laparotomy. Histopathology confirmed the diagnosis of islet cell tumor. After 11 years, he started experiencing symptomatic hypoglycemic episodes with inappropriately elevated serum insulin and C-peptide levels (2.2 ng/ml). On pancreatic angiography, a 16 x 11 mm size tumor blush was noted. Due to fibrosis from previous surgery, distal pancreatectomy along with splenectomy was done. Histopathology confirmed the diagnosis of insulinoma. On both occasions, workup for multiple endocrine neoplasia turned out to be negative. He was given small amounts of intermediate acting insulin in early postoperative period, which was discontinued shortly thereafter.

Cushing's disease and pregnancy: case report and literature review.

OBJECTIVE: To describe a patient with untreated Cushing's disease who had 2 spontaneous pregnancies that resulted in healthy babies on both occasions. METHODS: We present a case report with clinical, laboratory, and imaging data and discuss the literature pertaining to pregnancy in patients with Cushing's syndrome. RESULTS: A 28-year-old woman came to our endocrinology clinic with a 1-year history of symptoms and signs of Cushing's syndrome. An elevated 24-hour urinary cortisol excretion and an unsuppressed 1-mg overnight dexamethasone test confirmed the diagnosis. On her next visit, she reported a confirmed pregnancy, which ultimately resulted in the birth of a normal child. Further work-up subsequently showed 2 elevated 24-hour urinary cortisol values, loss of diurnal variation, and an elevated corticotropin level. There was lack of suppression on low-dose and high-dose overnight dexamethasone suppression tests. Magnetic resonance imaging of the pituitary showed normal findings. Inferior petrosal sinus sampling was recommended, but she declined the procedure. The patient returned 3 years later for reevaluation, at which time she reported the birth of another healthy child by cesarean delivery 10 months previously. There were no reported maternal or fetal complications. Examination at this visit revealed buccal pigmentation and proximal myopathy. Investigations showed increased 24-hour urinary cortisol excretion and serum corticotropin levels. Repeated magnetic resonance imaging disclosed a microadenoma on the right side of the pituitary. Unstimulated inferior petrosal sinus sampling showed a gradient to the right; thus, the presence of pituitary-dependent Cushing's disease was confirmed. CONCLUSION: Our case demonstrates that patients with pituitary-dependent Cushing's disease are more likely to have spontaneous pregnancies with favorable outcomes than are patients with Cushing's syndrome due to other causes. Our patient, despite having Cushing's disease for more than 7 years, had 2 uneventful pregnancies that produced normal healthy children, without exacerbation of her disease during pregnancy.

Laparoscopic adrenalectomy for Conn's syndrome.

Laparoscopic adrenalectomy is now used worldwide to resect adrenal adenomas and other adrenal tumors recently introduced in Pakistan. Two cases of endocrine hypertension, due to Conn s syndrome, undergoing laparoscopic adrenalectomy for the first time here, are reported.