Balkan Journal of Medical Genetics

HYPERGONADOTROPIC HYPOGONADISM, PROGRESSIVE EARLY-ONSET SPINOCEREBELLAR ATAXIA, AND LATE-ONSET SENSORINEURAL HEARING LOSS: CASE REPORT AND LITERATURE REVIEW
Sarikaya E,1 Ensert CG,2 Gulerman HC1
*Corresponding Author: Esma Sarikaya, Centre for Reproductive Medicine, Zekai Tahir Burak Women’s Health Research and Education Hospital, Talatpasa Bulvari Hamamonu 06230, Ankara, Turkey; Tel.: +90-312- 310-3100; Fax: +90-312-312-4931; E-mail: sudesarikaya@hotmail.com
page: 77

CASE REPORT

A 24-year-old Caucasian female was admitted to the Reproductive Medicine Outpatient Clinic with primary infertility for 2 years as the chief complaint. Written informed consent was obtained from our patient for the publication of this case report and any accompanying images. She showed normal growth and development and manifested age-appropriate pubertal development. Her menarche started when she was 12 years old, and the cycles were regular until she was 18 years old. Neurological symptoms began in the first decade of life with disequilibrium, poor balance with falling and dysarthria. Two years later clumsiness in fine finger movements and writing developed. Her symptoms progressed and she experienced several falls, but could walk without walking aids. Her menses became irregular and stopped when she was 22 years old and she was diagnosed as having premature ovarian insufficiency. Her parents were unrelated. Her father was a healthy man who died at 66 years of age. Her 69-yearold mother was said to be healthy until she was diagnosed as having Parkinson’s disease. There was no evidence of spinocerebellar ataxia (SCA) or hypogonadism or of neurological, endocrinological, ocular or skeletal disease in the family except that her 34-yearold unmarried brother who had a hearing problem and ataxia that started at 7 years of age. Her 22- and 20-year-old sisters were normal. Clinical examination revealed a lean young woman of normal intelligence and appearance with normal secondary sexual characteristics and normal height (164 cm). Her external genitalia were those of a normal female, without clitoris enlargement. Breast development was at Tanner stage 5, and pubic hair development at Tanner stage 4. There was no hirsutism or abnormal pigmentation. She presented no clinical signs of Turner syndrome. She was normocephalic with no facial dysmorphism. She had mild dysarthria and bilateral cerebellar ataxia affecting mainly the lower limbs. Muscle tone and power were normal in the limbs, with reflexes having reduced amplitude. There was mild dysmetria in the upper limbs on finger-nose testing. Sensation was reduced to light touch, pinprick and vibration. On electromyography, axonal sensorimotor peripheral polineuropathy was detected in the lower limbs. She had an abnormal gait and club foot deformity which led to poor balance with falling and skin problems in the lower limbs. There was horizontal gaze-evoked nystagmus bilaterally. The diagnosis of grade 1 SCA was made after clinical examination by an experienced neurologist (CGE). She did not approve of molecular analysis for expansions at the SCA 1, 2, 3, 6, 7 and Friedreich’s ataxia loci since her primary complaint was her infertility and not her neurological problems and the results would not change the treatment she would receive. Neither optic nerve atrophy nor cataracts were detected on fundoscopic examination. On ultrasound examination of the pelvis, the uterus was normal and the ovaries were slightly reduced in size. There was no cerebellar atrophy and the sella turcica was normal on magnetic resonance imaging. There was no kyphosis or scoliosis. Endocrinological assessment showed markedly raised serum levels of luteinizing hormone: 35.9 U/L, follicle stimulating hormone: 110.6 U/L and low estradiol: 14 pg/ml (normal ranges: 5-60 U/L, 5-30 U/L and 20-240 pg/ml, respectively) indicating a hypergonadrophic form of hypogonadism. Adrenal and thyroid function, hematological and biochemical studies and autoimmune panels were within normal levels. Results of metabolic evaluation were normal, including vitamin E, folate and B12 levels, α-fetoprotein, very long chain fatty acids and phytanic acid, lysosomal enzymes, amino and organic acids. Serum ammonia levels were normal with arterial pH measurements showing no signs of an acidosis. Serum CK and lactate levels were also normal. An echocardiogram (ECG) showed no prolonged Q-T interval. Smell testing was normal. Her karyotype was 46XX. On audiometry, pure tone threshold assessment revealed bilateral SNHL in the mid and high frequencies (>3.5 kHz) (Figure 1). Tympanometry was normal. She was not advised to use a hearing aid. There were no previous risk factors for hearing loss.

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