Polands syndrome is characterised by unilateral absence or hypoplasia of the pectoralis muscle, associated with the ipsilateral malformation of the hand. The syndrome is usually sporadic and occurs in about 1:32.000 live births. Polands syndrome has been described associated with other abnormalities, including renal aplasia or hypoplasia, hemivertebra, Klippel-Feil syndrome and Moebius syndrome. In literature are reported six cases of Moebius syndrome associated with hypogonadotropic hypogonadism and only one case of Moebius-Poland syndrome associate with hypogonadotropic hypogonadism. Here in, we report a case of a boy affected by isolated Polands syndrome, in which we diagnosed hypogonadotropic hypogonadism disease, in adolescent age. The patient was referred at our Department of Pediatric Endocrinology at the age of 14 years for pubertal delay and hypogenitalism. He had been born by caesarean section after normal pregnancy, AGA for birth and length, physiologic neonatal period. At born the hypoplasia of the left pectoralis muscle and the hypotrophy of the left hand had been noticed and the diagnoses of Polands syndrome had been established. At the first admission (chronological age of 14 years) his height was 159 cm (25°p), his weight 58 kg (5075°p). At the physical examination, the pubertal stage, according to Tanner criteria, was PH1 G1: testicular volume 1 cc bilaterally, micropenis (penile length 25 mm). To confirm the suspected diagnosis of hypogonadotropic hypogonadism, we performed a GnRh analogue stimulation test (Decapeptyl test 100 mcg sc) (basal values: LH <0.3 mU/ml, FSH 1.3 mU/ml, T <0.025 ng/ml after 240: LH <0.3 mU/ml, FSH 1 mU/ml, T 0.04 ng/ml) and then, an HCG stimulation test (testosterone level after stimulation 1.47 ng/ml), both documenting a subnormal response. Moreover, also the AMH value was under the normal limit for sex and pubertal stage (21.5 ng/ml). A further MRI scan of the brain showed no pathological lesions in the hypothalamus and pituitary gland, olfactory bulbs were normally represented. The boy started hormone replacement therapy with testosterone and is attaining full sexual development. Polands syndrome associated with hypogonadotropic hypogonadism, as in the case reported here, is very unusual. Pediatric endocrinologists should keep in mind a possible concomitant diagnosis of hypogonadotropic hypogonadism in patients with Poland anomalies and pubertal delay. Although up to now there is no evidence to connect these two abnormalities, awareness of this occurrence may lead to future cases being diagnosed.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology