Precocious puberty: The clinical profile and the etiological classification of children presented at a tertiary care children's hospital.

Objectives: To determine the clinical spectrum and underlying etiologies of children presented with precocious puberty at The Children's Hospital &The Institute of Child health, Lahore. Methods: It is a retrospective review of all the children presented with precocious puberty over one year, from January 2015 to December 2015; at the department of Paediatric Endocrinology & Diabetes, The Children's Hospital & The Institute of Child Health, Lahore. Results: Total 43 cases of precocious puberty (PP), with 26 females were reported in one year. Central precocious puberty (CPP) constituted 55.8% (24/43) and was found to be more prevalent in female (22/24). In 20/24 cases (83.3%) of central precocious puberty underlying etiology was idiopathic. Peripheral precocious puberty was found in 19/43 cases (44.1%) with male predominance (15/19). Congenital adrenal hyperplasia was the most frequent (12/19) underlying cause of peripheral precocious puberty in our cohort. Conclusion: Precocious puberty could be a manifestation of underlying serious medical condition. It should be thoroughly evaluated with the aim to diagnose the underlying pathology and to treat them promptly.

Management challenges of Rabson Mendenhall syndrome in a resource limited country: a case report.

OBJECTIVES: Rabson Mendenhall syndrome  (RMS) is a rare form of insulin resistance syndrome caused by insulin receptor mutation. In term of severity, it lies at an intermediate point on spectrum of insulin resistance with Donohue syndrome flanking the severe and Type A insulin resistance at the mild end. We are reporting a 3.5-month-old boy with RMS along with its management challenges in a resource limited country. CASE PRESENTATION: An infant presented at 3.5-month of an age with failure to thrive and fluctuating blood glucose level (hyperglycaemia and hypoglycaemia) along with clinical features of insulin resistance. He was found to have raised HbA1C, high insulin and C peptide level and a homozygous mutation in INSR gene c.1049C>T, (p.Ser350 Leu) confirming the diagnosis of RMS. He was managed with long-acting insulin (Detemir) along with frequent feeding. CONCLUSIONS: RMS in resource limited countries could be managed with frequent feeding along with insulin. Early diagnosis and management can improve long term outcome.