Moebius-Poland syndrome and hypogonadotropic hypogonadism

Abstract

Keywords Moebiussyndrome.Polandsyndrome.Hypogonadotropic.HypogonadismCase reportA male infant was born at 39 weeks of gestation, with birthweight (3.1 kg) and body length (49 cm) (both 50thpercentile). The occipitofrontal circumference was 33 cm(25th percentile). The newborn’s face was inexpressive dueto complete facial diplegia, bilateral ophthalmoplegia withimpairment of the vertical gaze of the right eye, palpebralptosis, a carp-shaped mouth, and a high-arched palate.Muscle and skeletal abnormalities were also apparent,including the absence of the pectoralis major and trapeziusmuscles, as well as left cubitus valgus; left hand washypoplastic and showed 5th finger clinodactyly. Thesefeatures prompted the diagnosis of Moebius-Poland syn-drome. No previous cases were known in the patient’sfamily. Clinical examination revealed no other dysmorphicfeatures except for micropenis. The karyotype was normal(46 XY). During follow-up, a mild psychomotor delay wasconfirmed by Denver Developmental Screening Test-II.Cortical-subcortical atrophy with no other structural abnor-malities was observed in magnetic resonance imaging(MRI) of the brain. Delayed puberty was recorded whenthe patient was 15 years of age (Tanner stage I wasrecorded after physical examination). The testicular volume(measured using a Prader orchidometer) was 2 ml. Anos-mia-tested by a standard olfactory test (CCCRC)- was notpresent. An endocrinological investigation revealed lowbaseline serum FSH (0.5 mU/ml), LH (0.1 mU/ml) andtestosterone (2 ng/dl) levels. To confirm the suspectedhypogonadotropic hypogonadism, a gonadotrophin releas-ing hormone stimulation test was performed and a verysubnormal response obtained (after 180 min and 24 h FSHconcentrations were 3.5 mU/ml and 0.7 mU/ml, respective-ly, and LH concentrations 0.7 mU/ml and 0.2 mU/ml,respectively). GH, TSH, and ACTH levels were normal. Afurther MRI scan of the brain showed no pathologicallesions in the hypothalamus or pituitary gland. With adiagnosis of hypogonadotropic hypogonadism established,the child was treated with gonadotrophic hormone followedby depot preparations of testosterone. The patient eventu-ally reached a normal weight and height and attained fullsexual development (final testicular volume 6–8 ml).DiscussionThe usual diagnostic criteria for Moebius syndromeinclude congenital facial palsy with impaired ocularabduction [1, 2, 4, 6]. Nevertheless, in a thorough review,Verzijl et al. reported that abducens nerve palsy is notalways present [6]. Vertical gaze palsy was recorded in theright eye of the present patient, suggesting involvement ofthe 3rd cranial nerve (Fig. 1). MRI scans often demonstrateanomalies of the posterior fossa in patients with Moebiussyndrome, and it has been proposed that the latter beunderstood as a complex congenital anomaly affecting the