Clitoromegaly caused by ovarian stimulation in a preterm newborn: ovarian hyperstimulation syndrome of preterm babies

Abstract

Background. Preterm ovarian hyperstimulation syndrome (POHS) is an uncommon disorder characterized by prematurity, hypogastric and upper leg swelling, high serum estradiol and gonadotropin levels, and ovarian cysts. Immaturity of the gonadal axis is accepted as the cause. But still, other etiological factors are suspected. Case. A preterm baby who was born at 24 gestational weeks was referred to our clinic for ambiguous genitalia on day 118 of life. Labia majora and clitoris was edematous. Clitoris length was 1.5 cm. On laboratory evaluation: 17OH-Progesterone: 1.84 ng/ml, dehydroepiandrosterone sulphate (DHEA-S): 139 μg/dl, total testosterone (T.T): 88 ng/dl, luteinizing hormone (LH): 22.5 mIU/l, Follicle stimulating hormone (FSH): 15.7 mIU/l, estradiol (E2): 447 pg/ml. Karyotype analysis was 46, XX. There was a 25x14x12 mm ovarian cyst detected on ultrasound. On follow-up, E2 levels and cyst size increased, and there was 4 mm pericardial effusion on echocardiography at the time. Conclusion. In this paper, we present a case with POHS and to discuss possible pathophysiological mechanisms and treatment. This is the first case of POHS developing pericardial effusion.

A Case with Preterm Ovarian Hyperstimulation Syndrome: The Importance of the Physical Examination in Differential Diagnosis of Ambiguous Genitalia

“…Since clitoral swelling can be seen in POHS patients, it can be confused with 46XX disorders of sexual development. 1 - 3 …”

“…To the best of our knowledge, only 23 cases have been reported to date. 2 , 3 The characteristic signs of POHS are vulvar, hypogastric, and leg edema detected at a median of 36.5 weeks of PCA (range: 30-39.6 weeks) with very high serum LH, FSH, and estradiol levels and ovarian cysts. 2 , 4 The etiology of POHS involves immaturity of the hypothalamic–pituitary–gonadal axis and a lack of negative feedback on the axis.…”

“… 5 Of the 22 patients with POHS reported in the literature, clitoral swelling was present in 14 (63.6%). 2 , 3 Clitoral swelling with external genital edema and no erectile tissue at palpation should raise a suspicion of POHS in preterm infants. In the present case, high serum cortisol was determined during nosocomial infection and was thought to be related to stress.…”