Pituitary apoplexy in cushing's disease: a single center study and systematic literature review.

INTRODUCTION: Pituitary apoplexy (PA) in Cushing's disease (CD) is rare with data limited to case reports/series. METHODS: We retrospectively reviewed case records of PA in CD managed at our center from 1987 to 2023 and performed a systematic literature review. RESULTS: We identified 58 patients (44 females), including twelve from our center (12/315 CD, yielding a PA prevalence in CD of 3.8%) and forty six from systematic review. The median age at PA diagnosis was 35 years. The most common presentation was type A (79.3%) and symptom was headache (89.6%), with a median Pituitary Apoplexy Score (PAS) of 2. Median cortisol and ACTH levels were 24.9 µg/dl and 94.1 pg/ml, respectively. Apoplexy was the first manifestation of underlying CD in 55.2% of cases, with 31.1% (14/45) presenting with hypocortisolemia (serum cortisol ≤ 5.0 µg/dl), underscoring the importance of recognizing clinical signs/symptoms of hypercortisolism. The median largest tumor dimension was 1.7 cm (53/58 were macroadenomas). PA was managed surgically in 57.8% of cases, with the remainder conservatively managed. All five PA cases in CD with microadenoma achieved remission through conservative management, though two later relapsed. Among treatment-naïve CD patients with macroadenoma, PA-related neuro-deficit improvement was comparable between surgical and conservative groups. However, a greater proportion of surgically managed patients remained in remission longer (70% vs. 38.5%; p = 0.07), for an average of 31 vs. 10.5 months. CONCLUSION: PA in CD is more commonly associated with macroadenomas, may present with hypocortisolemia, and surgical treatment tends towards higher and longer-lasting remission rates.

Pituitary apoplexy: a comprehensive analysis of 93 cases across functioning and non-functioning pituitary adenomas from a single-center.

INTRODUCTION: Pituitary apoplexy (PA) is a rare clinical syndrome due to acute/subacute pituitary hemorrhage and/or infarction; data on PA in functioning pituitary adenoma (FPA) is scarce. METHODS: A retrospective record-review of details of PA in non-functioning (NFPA) and FPA managed at tertiary endocrine center. RESULTS: 93 patients [56 males; 33.3% FPA: 5 acromegaly, 14 prolactinoma, and 12 Cushing's Disease (CD)] diagnosed with PA were included. Median age was 40 years, with younger age of presentation in FPA. Type A (acute) [49.5%] and headache (78.5%) were the commonest presentations, with PA being the initial manifestation in 98.4% of NFPA. Median (range) Pituitary Apoplexy Score (PAS) was 2 (0-8). Median tumor diameter was 2.5 cm, with larger tumors in FPA (3.2 cm vs. 2.3 cm). 29 (46.7%) NFPA-PA and 14 (45.2%) FPA-PA patients [71% prolactinoma, 33% in CD, and none in acromegaly] were conservatively managed. In the NFPA cohort, those managed surgically had significantly higher PAS (4 vs. 1) and larger tumor size (2.6 vs. 1.8 cm); however, both arms had comparable recovery of neuro-visual, radiological, and hormonal outcomes. In FPA cohort, CD and acromegaly required definitive treatment, whereas prolactinomas were effectively managed (clinical and biochemical recovery) with oral cabergoline and glucocorticoids. Matching PAS cohorts (to overcome allocation bias for management approach) in macroadenomas (excluding prolactinoma) showed comparable neuro-deficit and hormonal recovery between surgical and conservative approaches. CONCLUSION: PA in FPA has distinct features and management issues. Carefully selected patients (PAS guided) in NFPA with PA for conservative management have comparable outcomes to surgery.

Hashimoto's thyroiditis: relative recurrence risk ratio and implications for screening of first-degree relatives.

CONTEXT: The relative recurrence risk ratio (λR ) for Hashimoto's thyroiditis (HT) has not been widely studied. The age at which thyroid function evaluation should be initiated for relatives of HT patients remains unclear. OBJECTIVE: To study λR and age-related prevalence of HT in first-degree relatives of HT patients. METHODS: First-degree relatives (n = 861) of 264 HT patients were evaluated for goitre, thyroid function tests, thyroid antibodies (TAb) and urinary iodide concentration (UIC). HT was defined as TAb positivity and hypothyroidism (subclinical/overt). λR was calculated as {number of index patients whose relatives (of particular subtype) had HT/number of index patients having relatives of same subtype}÷ population prevalence of HT (5·1%). The age-related prevalence of HT was studied using Kaplan-Meier method. RESULTS: A total of 861 relatives (205 parents, 336 siblings and 320 offspring) participated in the study. About 38·3% were TAb positive. The prevalence of HT was 16·7% (22·9% in parents, 19·6% in siblings and 9·6% in offspring). TAb positivity (48·3% vs 33·1%) and HT (23·5% vs 13·6%) were significantly more common in the goitrous group (n = 267) vs nongoitrous group. The median UIC for the study population was 182·5 µg/l. Computed λR was 9·1 for any one relative being affected, 5·9 for parents, 6·3 for siblings and 3·1 for offspring. The prevalence of HT increased with age and exceeded the adult population prevalence of 5·1% at 20 years in females and 27 years in males. CONCLUSIONS: Relatives of HT patients have a ninefold increased risk for developing HT as compared to the general population. The risk of developing HT exceeds that of the general population at 20 years in females and 27 years in males.

Juvenile Granulosa Cell Tumour of the Ovary with Unilocular Pure Cystic Presentation: A Case Report and Review of Literature.

BACKGROUND: Granulosa cell tumours of the ovary are rare, hormonally active, oestrogen-secreting tumours of the ovary existing in two forms: the adult form and the even rarer juvenile form. These tumours present as predominantly solid lesions while the cystic, unilocular presentation is uncommon. CASE REPORT: We present an 18-year-old unmarried girl who presented with complaints of chronic pain, abdominal distension and presence of facial hair. Radiological examination revealed a large, purely cystic, unilocular lesion without any solid components, debris or septations. Histopathological diagnosis was of a juvenile granulosa cell tumour. CONCLUSIONS: Radiological criteria suggestive of malignant ovarian masses include thick, irregular walls and septae; papillary projections and solid, echogenic foci. Nonetheless, we propose that a malignant ovarian lesion should be included in the differential diagnosis of a unilocular, purely cystic ovarian lesion.

Renal Cysts and Nephrocalcinosis in a Patient Deficient in 11 beta-Hydroxylase Enzyme.

BACKGROUND: Chronic hypokalemia is known to induce renal structural and functional abnormality. The former includes induction of renal cyst formation and interstitial fibrosis while the latter entails urine-concentrating defect. However, these hypokalemia-mediated changes occur in a handful of conditions including primary aldosteronism, distal renal tubular acidosis, Liddle's disease, apparent mineralocorticoid excess syndrome and Bartter's type 3 syndrome. Such a finding has never been described in an 11 beta-hydroxylase deficient individual. CASE REPORT: We describe a case of a 15-year-old male, deficient in 11 beta-hydroxylase enzyme, presenting with hypertensive haemorrhage in basal ganglia and chronic hypokalemia-mediated nephrocalcinosis and renal cysts. To add to the uniqueness, our patient was discovered to harbour bilateral testicular adrenal rests as well. CONCLUSIONS: An early diagnosis could help prevent these sequelae and preserve long-term renal function and safeguard against ill-effects of hypertension. Besides, aetiology of nephrocalcinosis should be sought for and corrected.

An Association of Chronic Hyperaldosteronism with Medullary Nephrocalcinosis.

BACKGROUND: An association between chronic hyperaldosteronism and medullary nephrocalcinosis has rarely been made, with only a handful of cases described in literature. CASE REPORT: We describe five cases of hyperaldosteronism with a long- standing history in whom associated medullary nephrocalcinosis was established. CONCLUSIONS: We infer that a chronic hyperaldosteronic status, whether primary or secondary, is a causal factor in the etiopathogenesis of medullary nephrocalcinosis. This article illustrates and summarizes various postulated theories that support our proposed association between hyperaldosteronism and nephrocalcinosis. We conclude that chronic hyperaldosteronism should be included as one of the causes of nephrocalcinosis and that our case series emphasizes the need of a well-organized retrospective study to prove it further.

Radiological illustration of spontaneous ovarian hyperstimulation syndrome.

BACKGROUND: The role of radiology is of utmost importance not only in diagnosing s-OHSS but also in ruling out other cystic ovarian diseases and to determine the underlying etiology and course of the disease. We presented a radiological algorithm for diagnosing the various causes of s-OHSS. CASE REPORT: A 26-year-old female, gravida one was referred to radiology department with history of lower abdominal pain, nausea and vomiting since 2 days which was gradual in onset and progression. The patient had no significant medical and surgical history. CONCLUSIONS: This article illustrates and emphasizes that diagnosis of s-OHSS and its etiology can be completely evaluated radiologically. Biochemical markers will confirm the radiological diagnosis.

Persistent Müllerian duct syndrome (PMDS) presenting as bilateral cryptorchidism and left-sided inguinal hernia.

PMDS (persistent Müllerian duct syndrome) is a rare disorder of sex development characterised by the presence of Müllerian duct remnants in a phenotypically male individual with a 46XY karyotype. Radiological investigations play a crucial role in diagnosing and characterising this condition. Ultrasound and MRI are the modalities of choice. They help to non-invasively localise the gonads and Müllerian duct derivatives. Broadly, PMDS has two anatomical variants: male type and female type. The case report presented here does not fit into these classically described variants and can be called a variant of the female type. There is a risk of infertility and malignant transformation of undescended testis and Müllerian duct derivatives in cases of PMDS. Hence, management is focused on preventing these risks. Surgical intervention involves orchidopexy, removal of Müllerian duct derivatives and inguinal hernia repair.

Radiological features of multifocal embryonal rhabdomyosarcoma affecting the vagina and the urinary bladder in a pediatric patient.

Rhabdomyosarcomas are the most common soft-tissue sarcomas, found usually in the younger age group. Histologically, they are subdivided into embryonal, alveolar, pleomorphic and not otherwise specified. They have a heterogenous appearance on imaging with few additional characteristic features based on the subtype. Botryoid variant of embryonal rhabdomyosarcoma commonly involves the genitourinary and the biliary system. They can be multifocal. Most of these lesions have a heterogenous appearance on imaging with areas of necrosis and haemorrhage. On ultrasound, they are polypoidal with cystic areas and are vascular. The lesions are hyperintense on T2 sequences, isointense to the skeletal muscle on T1 sequences and show heterogenous enhancement. Surgery is the mainstay of treatment along with radiotherapy or chemotherapy depending on the site and the stage of the tumour. We report a case of botryoid variant of rhabdomyosarcoma involving the vagina and the urinary bladder.

Radiological findings in a case of congenital lumbar herniation of the kidney with a spinal tube defect.

The superior lumbar triangle is formed by the erector spinae muscles medially, internal oblique muscles laterally and the 12th rib superiorly. Herniation through this triangle can be congenital or acquired (primary or secondary). The contents of the hernial sac commonly include retroperitoneal fat, kidneys, ascending or descending colon, small intestines, stomach, spleen, etc. We present a case of an infant with congenital herniation of the left kidney through the superior lumbar triangle with an incidentally detected closed spinal tube defect. The anatomy of the lumbar triangle and a literature review of the associated hernia have been briefly described in this article.