Porphyria cutanea tarda Gaucher's disease von Hippel-Lindau disease Huntington's chorea Polyposis coli Haemochromatosis 21-Hydroxylase deficiency Osteogenesis imperfecta (some forms) Cystic fibrosis Galactosaemia Multiple endocrine neoplasia Ila Sickle cell anaemia and a thalassaemia Acute intermittent porphyria Phenylketonuria (classic) Wilson's disease Retinoblastoma a,-Antitrypsin deficiency...

The virilisation of a female fetus by overproduction of adrenal androgens secreted by an adrenal gland with 21-hydroxylase deficiency is well known. Although reconstructive genital surgery can greatly improve matters, the long term outlook for reproduction is extremely poor for many reasons, including anatomy. 2 The idea of prenatal treatment of 21hydroxylase deficiency by administering glucoco...

Adrenocortical tumour have been described in patients with 21-hydroxylase deficiency. These tumours are usually considered to be ACTH – dependent, as diffuse adrenal cortical hyperplasia is commonly seen. We report adrenal cortical tissue tumours developed in three patients with untreated congenital adrenal hyperplasia due to 21-hydroxylase deficiency. All of them had symptoms of adrenogenital ...

We report five-year-old girl with female pseudohermaphroditism due to classical form of 21-hydroxylase deficiency associated with Turner's syndrome (45,X/46,XX) and insulin resistance. She had clitoromegaly since birth, but Turner's syndrome and 21-hydroxylase deficiency were diagnosed incidentally at one and five years of age, respectively. Moreover, we determined insulin resistance, which res...

Congenital adrenal hyperplasia (CAH) is an autosomal recessive defect in steroidogenesis, mostly affecting 21-hydroxylase enzyme deficiency. Depending on the clinical level of 21-hydroxylase deficiency, three main types of CAH are differentiated: (1) classical salt-wasting (2) simple virilizing (classical non-salt-wasting) (3) non-classical. CAH prevalence is estimated at 1 : 14 000-1 : 10 000....

We conducted a retrospective study on the long-term effect of mitotane treatment testicular adrenal rest tumors (TARTs) in five adult patients with classic 21-hydroxylase deficiency. After 60 months treatment, decrease steroids was observed four patients. Testicular ultrasonography showed complete disappearance TART two patients, stabilization and halving volume remaining patient. Sperm count i...

Many inherited disorders affecting aromatic amino acid metabolism have been described. This review will concentrate on the defects that lead to deficiencies of dopamine and serotonin within the central nervous system. Phenylalanine hydroxylase, tyrosine hydroxylase, and tryptophan hydroxylase all require tetrahydrobiopterin (BH4) as a cofactor. Inherited defects that reduce the concentration of...

CONTEXT 11β-hydroxylase deficiency is the second most common form of congenital adrenal hyperplasia. Untreated, this enzyme deficiency leads to virilization, hypertension, and significant height impairment. PATIENT We describe a patient from abroad who first presented to us at age 7 years for follow-up of ambiguous genitalia. He had been investigated and treated in Pakistan at 3-years-of-age ...

Background: Melatonin has receptors in substantia nigra pars compacta (SNc) and regulates development of dopaminergic (DA) neurons. This study was undertaken to determine ability of melatonin to protect SNc dopaminergic neuron loss induced by estrogen deficiency in ovariectomized rats. Methods: Female rats were randomized into four groups of seven each: control, ethanol sham, ovariectomy (ovx) ...

a! Hydroxylation of lignoceric acid (n-tetracosanoic acid) to cerebronic acid (2hydroxylignoceric acid) by postnuclear preparations of brains from developing rat, mouse, and several neurological mouse mutants was studied. The preparations of brains from jimpy and myelin synthesis deficiency (msd) mice were found to synthesize cerebronic acid at less than 10% of their control rates, and those fr...