Pediatrics Endocrinology

         Familial glucocorticoid deficiency: Glucocorticord deficiency results in increased pituitary production of ACTH, which has melanocyte-like stimulatory hormone properties. The combination of normal blood pressure and normal-appearing genitalia in a female patient helps exclude adrenal hyperplasias, which would present much earlier in life (usually in the first month). This familial autosomal recessive disorder does not have salt wasting as a feature and is due in some patients to defects in the ACTH receptor.

·         Lipoid adrenal hyperplasia is a rare disorder, reported in fewer than 100, mostly Japanese patients. There is marked accumulation of cholesterol and lipids in the adrenal cortex and gonads, associated with severe impairment of all steroidogenesis. MUTATION IN STAR.

Genetic males are unable to synthesize androgens and thus are phenotypically female but with gonads. Genetic females appear normal at birth and may undergo feminization at puberty with menstrual bleeding. They too, however, progress to hypergonadotropic hypogonadism when accumulated cholesterol kills granulosa (i.e., steroid-synthesizing) cells in the ovary.

·         Malignant adrenal tumor: A 4-yr-old previously normal girl has developed acne and pubic hair. On physical examination she has clitoromegaly and mild increase in her blood pressure. Serum dehydroepiandrosterone sulfate is markedly elevated.

·         McCune-Albright syndrome is a polyendocrinopathy with excessive hormone production. Precocious puberty that is independent of central gonadotrophic hormones is classic. Additional features include fibrous dysplasia and cutaneous hyperpigmentation.

·         Apparent mineralocorticoid excess (11 -HSD deficiency): The hypokalemic alkalosis in a hypertensive patient without abnormal genitalia or sexual precocity is highly suggestive of a primary disorder of mineralocorticoid excess.

·         Glucocorticoid-remediable aldosterone is caused by Formation of a hybrid gene between CYPI IB1 and CYPIIB2. This unique mechanism explains the suppressibility of the  hyperaldosteronism, with one gene regulating the other.

·         Facial anomalies, especially if short stature is present, suggest pituitary and thus growth hormone deficiency.

·         Most patients with SOTOS syndrome have some degree of mental retardation. Perceptual deficits are also common.

·         In the absence of neurologic or visual signs, a pituitary or hypothalamic lesion is highly unlikely.

·         To Dx Congenital Hypothyroidism, T4 level should be done as TSH will be low always.!!

·         Anti-GAD antibodies, also known as anti-islet antibodies, are present in at least 90% of children with insulin-dependent diabetes.

·         Neonatal thyrotoxicosis normally is a self-limited disease that subsides by about 3 months of age when maternal TSIs are metabolized. However, tachycardia, irritability, and poor weight gain require treatment with low-dose PTU with or without propranolol. The danger of treatment is oversuppression of the neonatal thyroid and consequent hypothyroidism.

·         StAR protein is necessary for proper reduction of aldosterone, cortisone, and sex hormones. Its absence leads to feminization of males as part of congenital lipoid adrenal hyperplasia. In a subset of patients with congenital lipoid adrenal hyperplasia, mutations in StAR protein result in severe impairment of steroid biosynthesis in the adrenal glands and gonads.

·         Circadian rhythms do not affect the level of cortisol in very premature infants. Infants with extremely low birth weight may have quite low cortisol levels (9.2 ± 9.8 µg/mL) and lack the typical early-morning rise in cortisol. Whether such low corticosteroid levels in premature infants with very low birth weight indicate adrenal insufficiency is not fully known.

·         Even with bilateral adrenal hemorrhage, most infants are asymptomatic.

·         Hypoglycemia and microphallus are commonly presenting symptoms and signs of neonatal hypopituitarism.

Midline facial defects are associated with pituitary hormone deficiencies.

Placental growth hormone is secreted only into the maternal circulation.

·         Sex-determining region of Y-chromosome (SRY) is thought to be the first in a cascade of transcription factors that initiate the process of testicular development. SRY is located on the short arm of the Y chromosome, and the gonad loses bipotentiality at approximately 6-8 weeks' gestation. In the absence of SRY expression, the bipotential gonad will develop into an ovary.

·         Tandem mass spectrometry (MS-MS) can be performed on dried blood spots and can measure hundreds of metabolites to facilitate screening of dozens of inborn errors of metabolism while more precisely quantitating the levels of the metabolites to improve screening sensitivity and specificity.

·         There is no difference between the units torr and mmHg.