Central precocious puberty in a girl with Prader-Willi syndrome

Program: Abstracts - Orals, Featured Poster Presentations, and Posters
Session: SUN 596-623-Case Reports: Pediatric Endocrinology & Metabolism
Sunday, June 16, 2013: 1:45 PM-3:45 PM
Expo Halls ABC (Moscone Center)

Poster Board SUN-607
Kyunghee Yi*1, Hae Sang Lee2, Heon-Seok Han3 and Jin Soon Hwang4
1Wonkwang University Sanbon Medical Center, Kyungki-Do, South Korea, 2Ajou University School of Medicine, suwon, AK, South Korea, 3Chungbuk Natl Univ Hosp, Chongju, South Korea, 4Ajou Univ School of Med, Suwon City, South Korea
Background: Prader-Willi syndrome (PWS) is characterized by infantile lethargy and hypotonia causing poor feeding and failure to thrive, childhood obesity, short stature and hypogonadism. The resulting hypogonadism in PWS causes incomplete, delayed, and sometimes disordered pubertal development. Precocious puberty is very rare in PWS. We report a girl with PWS who was diagnosed with idiopathic precocious puberty and was treated with gonadotropin releasing hormone (GnRH) analog.

Clinical case: The patient was born at term, delivered by caesarean section from a non-consanguineous, healthy young parents. Shortly after birth, the patient was observed to manifest significant hypotonia. The patient was diagnosed with PWS because of hypotonia, low responsiveness to stimuli and absence of sucking reflex at the age of 5 months. The diagnosis was confirmed by a methylation test and a fluorescence in-situ hybridization (FISH) for chromosome 15. The patient was started on growth hormone (GH) treatment for short stature at 3 years old. She was referred to our department at the age of 8.2 years, because of breast enlargement which had started 6 months earlier. A physical examination revealed a Tanner stage III for breast development and Tanner stage I for pubic hair development. The growth rate was accelerated (7 cm/year). Skeletal maturation, evaluated by a left wrist x-ray was 10.5 years according to the Greulich and Pyle method. Endocrine evaluation revealed random luteinizing hormone (LH) level of 1.0 IU/L, follicle stimulating hormone (FSH) level of 1.7 IU/mL, and a slightly elevated estradiol level (15pg/mL). Gonadotrophin releasing hormone (GnRH) stimulation test revealed premature activation of the hypothalamus-pituiatry-gonadal axis with an LH peak value of 10.3 IU/L and FSH peak value of 9.2 IU/L. These clinical, radiologic and laboratory findings were consistent with a diagnosis of idiopathic central precocious puberty; therefore, GnRH analog therapy (leuprorelin 3.75 mg S.Q. every 28 days) was started, in order to slow the pubertal progression and to preserve maximum adult stature. The patient’s growth was satisfactory during GnRH analog treatment. Regression of breast development was noted after three months of treatment, and serum estradiol levels decreased to normal limits for prepubertal girls. She is now 9.5 years old and still receiving GnRH analog and GH treatment.

Conclusion: Most PWS patients have hypogonadotropic hypogonadism, but precocious puberty can sometimes occur such as in our case. Further studies are needed to determine the pathophysiology of pubertal onset and progression in this population. Also, GnRH analog treatment improved the growth potential and restored more appropriate pubertal progression in PWS with precocious puberty.

Nothing to Disclose: KY, HSL, HSH, JSH

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