17 HYDROXYLASE DEFICIENCY IN AN ADOLESCENT GIRL

An easily missed diagnosis: 17-alpha-hydroxylase/17,20-lyase deficiency.

The CYP17A1 gene encodes the enzyme P450c17, which mediates both 17α-hydroxylase and 17,20-lyase activities and is essential for production of cortisol and sex steroids. Loss-of-function mutations of this gene cause 17α-hydroxylase/17,20-lyase deficiency, characterized by hypertension, hypokalemia and sexual infantilism. A 6-year-old phenotypically female patient presented with hypertension and...

A case of 17 alpha-hydroxylase deficiency

17α-hydroxylase and 17,20-lyase are enzymes encoded by the CYP17A1 gene and are required for the synthesis of sex steroids and cortisol. In 17α-hydroxylase deficiency, there are low blood levels of estrogens, androgens, and cortisol, and resultant compensatory increases in adrenocorticotrophic hormone that stimulate the production of 11-deoxycorticosterone and corticosterone. In turn, the exces...

Perforated peptic ulcer in an adolescent girl.

A perforated peptic ulcer in a child is a rare entity. Severe abdominal pain in an ill-appearing child with a rigid abdomen and possibly with signs of shock is the typical presenting feature of this life-threatening complication of peptic ulcer disease. We present a case of a 14.5-year-old adolescent girl who developed abdominal and shoulder pain that resolved after 1 day. She was then complete...

Severe hypertension in an adolescent girl.

A 14-year-old girl presented to the emergency department (ED) with pain and swelling in her right foot after a sledding accident. There was no history of head trauma, headaches, nausea, vomiting, vision changes, chest pain or palpitations, abdominal pain, peripheral edema, or sweating. Her initial examination revealed a blood pressure of 204/140 mm Hg, and several repeat blood pressure measurem...

[Imported donovanosis in an adolescent girl].