Timing of surgery for feminizing genitoplasty in patients suffering from congenital adrenal hyperplasia
. Endocr Dev.
Experts noted that even though a Karachi-based private hospital had the technology to test for the CHT and four other rare diseases (cystic fibrosis, congenital adrenal hyperplasia
, biotinidase deficiency and galactosemia), it was rare for babies to be screened at birth in Pakistan even though such screening had been common in the developed world for the past 50 years.
Neonatal Screening for Congenital Adrenal Hyperplasia
in Turkey: A Pilot Study with 38,935 Infants.
The underlying cause of ambiguous genitalia in a newborn/child needs extensive and urgent investigations not to miss the life threatening problem like congenital adrenal hyperplasia
(CAH) which comprises major presentation of DSD.5,6 Thorough clinical, hormonal, radiological, chromosomal, and molecular evaluations is therefore essentially required.
(6) It is difficult to diagnose AHC in a neonate because it is often misdiagnosed as the salt wasting form of congenital adrenal hyperplasia
which is the most common etiology for adrenal insufficiency in this age group.
The term congenital adrenal hyperplasia
(CAH) comprises a group of autosomal recessive disorders, each of which involves a deficiency of an enzyme involved in the synthesis of cortisol, aldosterone, or both.
He emphasized that PCOS is a clinical diagnosis and other conditions mimicking PCOS should be ruled out like hyperprolactinemia, hypothyroidism, Congenital adrenal hyperplasia
, Cushing's syndrome etc.
However, if you just screen, diagnose and treat, the baby will lead a normal life." Newborns are screened for diseases including Glucose 6 Phosphate Dehydrogenase, hearing loss, cystic fibrosis, biotinidase, thalassaemia, sickle cell disease, congenital adrenal hyperplasia
, congenital hypothyroidism as well as phenylketonuria.
Dark, who hails from Clydach, Swansea in Whales, was born with an inter-sex medical condition known as congenital adrenal hyperplasia
(CAH) which doctors only discovered when she was 15 years old, as reported by Wales Online.
When she was 15 years old, Lisa-Lee was told she had an inter-sex medical condition known as congenital adrenal hyperplasia
Congenital adrenal hyperplasia
(CAH) is a group of autosomal recessively inherited disorders, which are clinically characterized by different degrees of virilization and salt wasting caused by deficiency of enzymes involved in biosynthesis of steroid hormones (6,7).
Although they are generally unilateral in presentation and hormonally inactive, about 10% may be associated with endocrine diseases including Cushing's syndrome, congenital adrenal hyperplasia
, Conn's syndrome, pheochromocytoma, and hyperthyroidism (4).