Endocrine Abstracts

XY disorders of sexual development (DSD) are rare causes of primary amenorrhea and are associated with significant diagnostic and therapeutic implications. We report a novel association of compound heterozygous missense NUP107 variants in a girl with hypergonadotropic hypogonadism and XY karyotype. This 17-year-old girl born of consanguineous marriage presented with absent breast development and primary amenorrhea. Her past medical history included the surgical removal of an a...

A 11-year 10-month boy born of non-consanguineous marriage presented with recurrent oral and respiratory tract infections and failure to thrive from the age of one year. He was born at term with a birth weight of 3.5 kg with an uneventful perinatal period. The parents noticed recurrent oral infections with the whitish curd-like layer deposited over the oral mucosa. They also complained of gradual skin darkening, easy fatiguability, and growth failure over the last three years....

Hypoparathyridsm and pseudohypoparathyroidsm are the common causes of pathological calcification in the brain though 0.3–1.5% cases are physiological. The clinical presentation of hypoparathyroidsm can vary with the calcium levels and chronicity of hypocalcaemia. We describe a 39-year-old female who had type one diabetes for the last 23 years. She was repeatedly hospitalised with collapse episodes thought to be hypoglycaemic though never proved. She also had primary hypop...

Background: Cardiovascular disease is an important cause of morbidity/mortality in chronic GH hypersecretion.Aim: To evaluate cardiovascular system in a large series of patients with pituitary gigantism. Standard case report forms were used with height assessments related to local country norms. Results: 151pts (123 male) with GH-excess and abnormal growth velocity for age or final height >2SD over local norms had complete data on cardiac assessments...

Background: CHARGE Syndrome is a rare inherited congenital disorder [1]. The name reflects the initials of the clinical findings (Coloboma, Heart disease, Atresia of the choanae, Retarded growth and mental development, Genital anomalies, Ear malformations, and hearing loss). The disease has four major findings expressed as 4C; ocular coloboma, choanal atresia, cranial nerve abnormalities, and characteristic ear anomalies [2]. Objective: Here, a case of C...