SW – Characterized in neonates by failure to thrive, hyperkalemia, and hyponatremia. Females present with varying levels of ambiguous genitalia. Other signs and symptoms include poor feeding, vomiting, dehydration, and weight loss. Neonates are at risk for adrenal crisis, particularly males who are at risk for missed diagnosis due to normal genitalia, absent newborn screening.
SV – Female neonates present with ambiguous genitalia. Without therapy, both males and females will begin to show effects of androgen excess (eg, acne, rapid growth, advanced bone age, premature pubic and axillary hair).
NC – Milder, and may present any time postnatally with signs of androgen excess. In females, this may manifest with hirsutism, menstrual irregularities, and infertility. Males are less affected. May be asymptomatic.
Management is multidisciplinary and may include glucocorticoid or mineralocorticoid therapy, replacement salt (sodium chloride), patient and family education and counseling, hormone replacement, reconstructive surgery (genitoplasty, vaginal dilation), and monitoring for complications.
See also adrenogenital syndrome.
For more information, see OMIM.
E25.0 – Congenital adrenogenital disorders associated with enzyme deficiency
698855007 – 21-hydroxylase deficiency
- Other causes of 46,XX disorders of sexual development
- In infants, other causes of failure to thrive
- In teenagers, other causes of premature pubarche, accelerated growth velocity, and advanced bone age, including precocious puberty
- In adult women, polycystic ovarian syndrome and other causes of infertility