Autonomous growth hormone secretion due to McCune Albright syndrome in paediatric age group: an ominous triad.

PURPOSE: The current study aimed to report cases of McCune Albright syndrome (MAS) with growth hormone (GH) hyper secretion along with a systematic review of literature to elucidate challenges and intricacies in its diagnosis and management. METHODS: It was a single centre study carried out in individuals with MAS and autonomous GH secretion (AGHS). In addition, a systematic search of literature across three databases (PubMed, Scopus and EMBASE) was performed from inception until May 31, 2021 to identify cases of MAS with AGHS in the pediatric age group (<18 years). RESULTS: Three cases from authors centre and 42 cases identified from systematic literature review were analysed. Precocious puberty was the most common presenting endocrinopathy seen in 56.8% (25/44) cases, followed by hyperthyroidism (10/45), hypophosphatemia (4/45), and hypercortisolism (2/45). Cranio-facial fibrous dysplasia (CFFD) was seen in all while polyostotic fibrous dysplasia and Café au lait macule was seen in 40/45 (88.9%) and 35/45 (77.8%), respectively. Pituitary adenoma (58.3% microadenoma) was localized in 53.3% (24/45) cases on pituitary imaging. Biochemical and clinical remission of AGHS was achieved in 61.5% (24/45) cases with medical therapy. CONCLUSION: Diagnosing AGHS in MAS is challenging because of concomitant presence of CFFD, non-GH endocrinopathies associated height spurt and elevated serum IGF-1. GH-GTT should be performed in presence of elevated growth velocity and serum IGF-1 (>1 X ULN) despite adequate control of non-GH endocrinopathies. Medical management can lead to disease control in substantial number of cases and often entails use of multiple agents.

Paediatric Pituitary Adenomas: Clinical Presentation, Biochemical Profile and Long-Term Prognosis.

Context: Paediatric pituitary adenomas (PPAs) are uncommon, with evidence confined to small cohorts. Aim: We aimed to elucidate the baseline profile and outcomes of PPAs in a large, contemporary, monocentric cohort. Settings, Design: Pituitary clinic at PGIMER over 8 years (2010-2018). Subjects and Methods: PPAs in patients (≤20 years at diagnosis) were included. A retrospective review of their baseline clinico-biochemical and radiological profiles and outcomes post pituitary surgery/medical management was performed. Results: There were a total of 74 patients, of which 42 were female. The median age was 15 (IQR 13-18) years. Corticotropinomas (32.4%) and somatotropinomas (25.7%) were common, with 1 case of TSHoma and pituitary blastoma. The most common presentation was headache (57%) overall and menstrual irregularities (64.2%) in girls. Most (78%) had macroadenomas. Prolactinomas showed an excellent response to primary medical therapy (83.3%). Transsphenoidal surgery was performed in 81% of patients. Diabetes insipidus (30%) and hyponatremia (26.7%) emerged as common postoperative complications. Adjuvant medical management was required in 25%, and radiotherapy in 18%. Remission rates in Cushing's and acromegaly were 62.5% and 57.8%, respectively, with long-term hormone deficits noted in one-third of patients. Conclusion: PPAs have unique features and management challenges, including effects on growth and puberty. Functional tumours and macroadenomas are common. Remission can be achieved in more than half of the patients, with endocrine deficits persisting in about a third of cases, needing long-term surveillance.

Endonasal endoscopic versus microscopic transsphenoidal surgery in pituitary tumors among the young: A comparative study & meta-analysis.

PURPOSE: The transsphenoidal approach presents unique challenges in young, with scanty literature. This study compares the outcome of pituitary tumors among young in our center between endoscopic(EES) and microscopic(MTS) transsphenoidal surgery, with a meta-analysis. METHODS: Patients within 20 years were studied for their surgical approach to a favorable outcome of endocrine remission (ER) (functioning) or Gross/Near-Total resection (nonfunctioning), besides the need for retreatment. Relevant studies were pooled and analyzed according to PRISMA guidelines. RESULTS: Out of 64 young patients with pituitary tumors, 48 underwent transsphenoidal surgery using MTS(33) or EES(15). Of these, 21, 14, 5, and 8 had Cushing's, somatotropinomas, prolactinomas, and non-secreting tumors, respectively. Mean symptom duration was 28months, with weight gain(50 %) and visual complaints(29 %) most prevalent. Hypogonadism(21 %) was the most frequent endocrinopathy. The mean tumor volume was 3.8 cm3. Over mean follow-up of 4.4years, favorable outcome was significantly higher after EES than MTS(78.6 % vs. 46.7 %)(odds ratio 4.18, p = 0.05). EES's better outcome was homogeneous across subgroups of age and tumor type, with no significant subgroup difference. Symptom duration was significantly higher among those who required retreatment(p = 0.05), while ER had a non-significant association with tumor volume(p = 0.07). Overall, 40 %, 27 %, 17 %, and 8% were on hydrocortisone, thyroxine, sex hormone, and desmopressin, respectively, at follow-up with no significant difference between EES and MTS. In pooled analysis of literature, both favorable outcome(74 % vs. 48 %,p = 0.02) and retreatment rate(8% vs. 37 %,p = 0.004) were significantly better with EES than MTS. CONCLUSION: Among young patients with pituitary tumors, the favorable outcome and retreatment rates are better with endonasal endoscopy and associated with symptom duration and tumor volume.