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We report a rare genetic disorder, the Melnick-Needles syndrome (MNS) in 3 members of the same family, the mother and 2 daughters. This syndrome is a rare X-linked genetic disorder characterized by abnormal bone development, showing a particular facial appearance; moreover, these patients may also have a relatively small chest cavity with irregular ribbon-like ribs, a short clavicle and narrow shoulders. Stature is mildly reduced. The 3 members of this family shared the same common clinical and radiographic features designating MNS. The mother and the younger daughter were of short stature, while the other daughter was of normal stature within her parental target height. The evaluation of the GH/IGF-I axis evidenced a GH deficiency in 1 out of 3 members of the family, specifically in the younger daughter. The auxological evaluation also showed her stature was nearly below a 3 standard deviation score. This case report describes for the first time a family affected by MNS, in which one of the members shows a truly severe idiopathic, isolated GH deficiency, the likely cause of the severe short stature.

Autoimmune polyglandular syndromes (APS) are conditions characterized by the association of two or more endocrine and non-endocrine autoimmune disorders. Diabetes mellitus type 1 (T1DM) is one of the most frequent components of APS and is often its first symptom. The frequency of autoimmune pathologies in patients affected by T1DM is proportional to the persistance of ICA. Even in first relatives of these patients, an increase in incidence of latent or manifest autoimmune pathology is noticed. The association of T1DM with autoimmune thyroiditis and celiac disease in a girl from a family affected by high incidence of autoimmune pathology is described. The role of gluten in the pathogenesis of T1DM and some other autoimmune conditions in genetically predisposed subjects. Infact studies are still inadequate for demostrating how a gluten-free diet could delay or mitigate the course of T1DM and of other autoimmune pathologies in genetically predisposed subjects. Nevertheless, it is suggested that gluten could represent a starting or a maintenance factor of autoimmune processes and the risk of autoimmune pathologies is proportional to the duration of the exposure to gluten. A screening for a quick singling out of autoimmune pathologies is suggested for T1DM patients, their first relatives and for subjects affected by other autoimmune diseases or celiac disease.

The Floating-Harbor Syndrome (FHS) is a rare entity characterised by a clinical triad: facial dysmorphism, retarded speech development and short stature with delayed bone age. The case of a 9-year and 8/12 months old boy showing the typical features of this syndrome associated to a severe GH deficiency is reported. At diagnosis of FHS, the weight was 16 kg (< 3 degrees percentile), height 112 cm (< 3 degrees percentile), cranial circumference 53.8 cm (> 90 degrees percentile). The evaluation of growth hormone secretion by two Insulin Tolerance Tests confirmed an insufficient GH peaks response (2.7 ng/ml and 4.6 ng/ml). He had a slight mental delay (IQ: 60) involving language skills. After 1 year of treatment with r-hGH (0.6 IU/kg/week), an increase in growth velocity (11 cm/year) in the length (123 cm), and in body weight (20.5) has been observed. This case is the 22nd report with this syndrome and the first in Italy. The association between GH deficiency and FHS, and the beneficial effects of a substitutive treatment are described.