Congenital adrenal hyperplasia (CAH) denotes a group of autosomal recessive disorders. Its clinical spectrum varies from classical CAH (CCAH) to nonclassic CAH. It may be a simple virilizing form or salt-wasting type. The study described the clinical presentation, treatment modalities, and sequelae of CAH, including its effect on patient growth during long-term follow-up. A case series study was conducted on patients with CAH who attended and followed up in the Endocrine Clinic in Tripoli Children's Hospital from January 1, 2000 to December 31, 2018. The presentation and the last visit captured demographic and clinical features at the time of diagnosis, types of CAH (classical vs. nonclassical), investigations, treatment details, and height. All patients underwent biochemical testing and hormonal assay, including adrenocorticotropin hormone (ACTH), 17-hydroxyprogesterone (17-OHP), and plasma renin activity (PRA) levels before and after treatment. Fifty-eight patients were included; 38 (65.5.2%) were female, age at presentation in 94.8% ranged between 1 day and 10 years, with a mean age of 2.3 ± 1.1 years. Ambiguous genitalia was the presenting feature in 55.2 and 84% of total and female patients, respectively. Salt wasting was present in 37.9%. Of 32 female patients with ambiguous genitalia, only 11 (34.4%) out of them and 19% of all patients had a surgical correction. The mean and standard deviation of height at diagnosis was 78.327 + 31.070, and the last visit after treatment was 108.345 + 31.781. The relation between the date of birth and height throughout follow-up for those at last visit with age ranges from 13 to 18 years old, their mean and standard deviation of height was 135.650 + 29.286, and for patients who were less than13 years at last visit, the mean and standard deviation of height was 101.079 + 32.121; p-value = 0.003. The Z-scores were calculated and showed that about eight patients were positively above the average mean of the population. Biochemical disturbances were improved after treatment, including sodium, potassium, and glucose in CCAH type; p-value < 0.001. Hormonal findings included levels of ACTH, 17-OHP, and PRA; all levels were reduced with treatment; p-value < 0.001. In this single-center series, most of our patients with biochemical and hormonal abnormalities were normalized with hormonal replacement and limited surgical correction of females with ambiguous genitalia.
Background: Hypopituitarism refers to complete or partial failure of pituitary hormones secretion that has a wide range of clinical manifestations which require hormone replacement to eliminate or minimize the symptoms and clinical signs of specific hormone deficiencies. We aimed to identify clinical presentation and management of hypopituitarism in pediatric age group. PATIENTS & METHODS: This is a case series study involving 35 patients who were diagnosed to have hypopituitarism due to different causes at Endocrine Clinic of Tripoli-Children Hospital from 2000 to 2010. Data were collected from patient's hard records in the clinic, which include age at presentation, sex, clinical presentation, associated illness, height, weight, extent of pituitary hormone deficiencies, pituitary imaging findings and hormone replacement status. Results: Out of 35 patients 54.3% were males, 45.7% were females with median age at presentation (10±4.5) years. The most common clinical manifestation was short stature (68.6%) followed by hypoglycemia (14.3%) and delayed puberty (8.6%). 11.4% had Craniopharyngioma. MRI showed normal pituitary in 40% of patients, pituitary hypoplasia in 45.7%. Biochemically, growth hormone (GH) deficiency was evident in 82.9%, low TSH in 17.1%, low T4 in 14.3%, low serum cortisol level in 20%, low ACTH in 11.4%, low FSH in 8.6%, and low LH in 5.7%. The result also showed that 5.3% of males had low testosterone level and 18.8% of females had low estrogen level. Hormonal replacement included GH therapy (85.7%), thyroxine (62.9%), cortisol (45.7%) and sex hormone (31.4%). Conclusion: Most common clinical presentation of hypopituitarism was short stature. Symptoms of patients with hypopituitarism improved by appropriate hormonal replacement according to their needs.
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