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

DISCUSSION

We here document a patient with an unusual pattern of AAHH because of her secondary amenorrhea and normal intelligence. She also had nystagmus and clinical and electrophysiological evidence of a progressive peripheral motor and sensory neuropathy, and club foot deformity. We compared our case with the reported cases of this association. It is discussed in the literature whether AAHH is part of a separate clinical entity or should be included within the spectrum of PS. Some cases were designated as variants of Gordon Holmes type ataxia [12], others reported as a variant of PS [2,5,10,13,15,16,18,19], others reported as an association [3,4], and others reported as a recessive disorder comprising ovarian dysgenesis and sensorineural deafness, with neurological abnormalities present in a minority of cases [20].We preferred to use the term AAHH instead of type II PS, as did Amor et al. [3] and Georgopoulos et al. [4]. As in our patient, the time of the clinical diagnosis of AAHH in most cases took place after the apparition of a secondary amenorrhea or a delayed puberty in a deaf female. The mean age at diagnosis was 22 years in the literature. Our patient had no facial dysmorphism, optic atrophy, epilepsy, skeletal or other endocrinolgical problems. This ruled out Richards-Rundle, Alström, Marinesco- Sjögren’s syndromes, Blepharophimosis-ptosisepicanthus inversus syndromes mitochondriopathies and Wolfram’s syndrome [diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD)]. Kallman’s syndrome was also ruled out as there was no smell disorder. The normal serum vitamin E levels excluded ataxia due to isolated vitamin E deficiency or hypobetalipoproteinemia. The normal serum very long chain fatty acids and phytanic acid levels excluded Zellweger syndrome and Refsum’s disease. The normal serum CK and lactate levels excluded coenzyme Q10 (CoQ10) deficiency. Serum ammonia levels were normal with arterial pH measurements showing no signs of an acidosis. This excluded multiple acyl- CoA dehydrogenase deficiency or glutaric aciduria type II [21-25]. Since her karyotype was 46XX, ovarian dysgenesis was not attributed to a chromosomal abnormality. Our patient manifested age-appropriate pubertal development. Her secondary amenorrhea was atypical since most of the reported cases of AAHH, manifested by primary amenorrhea. Other reported secondary amenorrhea cases of AAHH, were sisters in the study by Amor et al. [3] and patient 2 in the study by Fiumara et al. [16]. In PS, the cardinal manifestation is primary amenorrhea and an ovarian dysgenesis has been reported in all female cases. There are a few more reported secondary amenorrhea cases of PS but they have no ataxia. Marlin et al. [19] reported that the amenorrhea was primary in 24/28 PS patients but can also occasionally be secondary. The exact frequency of the secondary amenorrhea cases seen with PS cannot be ascertained since several reports did not include a description of either secondary or primary amenorrhea. The same problem is also present for the associated neurological problems. Moreover, Fiumara et al. [16] reported that girls with PS generally have menarche and a few regular initial periods before becoming amenorrheic, thus suggesting that ovaries develop to some extent, then undergo progressive atrophy but they did not explain how they reach such a conclusion. The present case and those of Amor et al. [3], were similar in that they had secondary amenorrhea and their intelligence was normal, contrary to the mental impairment in PS, Richards-Rundle syndrome and other case reports [5,11,13,15,16,19]. However, our case differs from those of Amor et al. [3], as her onset of neurological symptoms was in childhood. A childhood onset of neurological symptoms was the common feature in all of the previous reports.

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