Giant Ovarian Cyst as an initial manifestation of Congenital Hiperplasia due to P450c17 deficiency

Program: Abstracts - Orals, Featured Poster Presentations, and Posters
Session: SUN 29-49-Congenital Adrenal Hyperplasia & Ectopic Cushing's
Clinical
Sunday, June 16, 2013: 1:45 PM-3:45 PM
Expo Halls ABC (Moscone Center)

Poster Board SUN-32
Lillian Loureiro Cavalcante1, Miguel Nasser Hissa*2, Rosana Quesado3, Virgínia Ribeiro Teixeira3 and Luciani Carneiro Carvalho4
1Hospital da Clínicas da Universidade Federal do Ceará, 2Clinica de Metabolismo endocrino, Fortaleza, CE, Brazil, 3Universidade Federal do Ceará, 4Hospital das Clínicas da Universidade de São Paulo
INTRODUCTION: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders that cause inborn errors of adrenal  steroidogenesis . It has a wide clinical spectrum, varying according to the enzyme complex affected and severity of deficiency. 17-α-hidroxilase/17, 20 lyase (P450c17) deficiency is a genetic disorder that represents a rare cause of CAH . Female with this disorder may present delayed puberty, infertility and hypertension. Giant ovarian cyst are less common. CASE REPORT:  a female searched for assistance for treatment of a right ovarian cyst at 21 years old. Reported thelarche and pubarche initiated  at 14 years old and menarche at 16 years old. She was submitted to a left ooforectomia at 20 years old due a giant ovarian cyst (10 x 8 x 6 cm). Anatomo-pathology  described as serous cystoadenoma. Physical examination revealed: Weight: 53 kg; height: 166 cm; span: 170 cm; Blood pressure: 150 x 90 mmHg; Puberal development: M4P2;  Lab tests: undetectable levels of androgen; low serum levels of potassium; estrogen and cortisol, renin and high serum levels of  LH, ACTH, 11-deoxycorticosterone, corticosterone, aldosterone and pregnenolone. Pelvic U.S.: enlarged right ovary with a cyst of 4.0 cm in its greatest diameter and uterine volume of 62.5 cm3. Abdominal CT scan with contrast: showed right  and left adrenal nodules (1.6 x 1.5 cm and 4.0 x 3.0 respectively) of nonspecific aspect. Genetic analysis by polymerase chain reaction (PCR). showed a mutation in CYP17, specifically in p.P428L.  Patient was treated with GnRH agonist, dexamethasone, antihypertensive; estrogen and progesterone with ovarian volume reduction and improvement of high blood pressure. CONCLUSION: Giant ovarian cyst maybe an initial manifestation of CAH P450c17 deficiency. The presence of hypertension associated with hypoandrogenism and  hypokalemia in this case corroborated to  this  diagnosis.

Nothing to Disclose: LLC, MNH, RQ, VRT, LCC

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