Trichorhinophalangeal syndrome as a diagnostic and therapeutic challenge for paediatric endocrinologists.

Trichorhinophalangeal syndrome (TRPS) is rare genetic disorder with autosomal dominant inheritance. The TRPS1 gene is located on the long arm of the eighth chromosome (8q24.12). The phenotype is variable and presents a wide clinical spectrum. Most cases are characterised by thin, sparse scalp hair, distinctive facial dysmorphism, and various skeletal abnormalities, especially of the hands and feet. Characteristic facial features may include a "pear-shaped" nose, micrognathia, dental anomalies, prominent ears, elongated philtrum, and thin upper vermillion border. In most cases, affected individuals exhibit skeletal abnormalities including brachydactyly and clinodac-tyly, short metacarpals phalanges, short feet and metatarsals, and pectus carinatum and hip joint malformations. Additionally, patients may exhibit short stature. This report presents four cases of TRPS (three sporadic and one familial). Clinical presentation included typical facial features and vari-ous skeletal abnormalities. Some TRPS symptoms may mimic growth hormone deficiency and other endocrine disturbances. The aim of this article is to deliver TRPS symptomatology. The treatment of TRPS is symptomatic and supportive and requires the coordination of several specialists, including paediatricians, endocrinologists, orthopaedic surgeons, dermatologists, and medical rehabilitation and den-tal specialists. In some cases, recombinant growth hormone therapy may be necessary. Genetic counselling may be of benefit for affect-ed individuals and their families.

Resistance to thyroid hormone with a mutation of the thyroid ß receptor gene in an eight-month-old infant - a case report.

INTRODUCTION: Resistance to thyroid hormone (RTHß) is a rare syndrome of impaired tissue responsiveness to thyroid hormones (THs). The disorder has an autosomal dominant or recessive pattern of inheritance. Most of the reported mutations have been detected in the thyroid hormone receptorß gene (THRß). CASE REPORT: Authors present an eight-month-old infant with poor linear growth, decreased body weight, tachycardia, positive family history, and neonatal features suggestive of RTHß. Both our patient and his mother had elevated free thyroxine, free triiodothyronine, and non-suppressed thyrotropin (TSH) concentration. The fluorescent sequencing analysis showed a heterozygous mutation c.728G>A in TRß gene. This pathogenic variant is known to be associated with THR. CONCLUSIONS: The clinical presentation of RTHb is variable, ranging from isolated biochemical abnormalities to symptoms of thyrotoxicosis or hypothyroidism. The syndrome should be suspected in patients with increased serum TH level, accompanied by a normal or elevated TSH concentration. The affected patients require individualised management.

Are Psychosocial Consequences of Obesity and Hyperandrogenism Present in Adolescent Girls with Polycystic Ovary Syndrome?

STUDY OBJECTIVE: The objective of this study was to evaluate whether body weight status and clinical hyperandrogenism may influence social competencies and psychological gender features in adolescent girls. DESIGN AND PARTICIPANTS: In 104 adolescent girls, psychological gender inventory (PGI) and social competencies questionnaire (SCQ) (assessing social abilities in three aspects: intimacy (I), social exposure (SE), and assertiveness (AS)) were performed. Subjects were divided into four subgroups: G1-24 nonobese girls without hyperandrogenism, G2-18 obese girls without hyperandrogenism, G3-30 nonobese hyperandrogenic girls, and G4-32 obese girls with hyperandrogenism. RESULTS: There were no significant differences in all parts of SCQ and PGI between the study and control groups. The feminine woman type dominated in all groups; in G3 and G4, masculine woman type appeared more often than in G1 and G2 (13.3% and 12.5% versus 4.0% and 0.0%, resp.). In G4, positive relationship between BMI z-score and SCQ (r = 0.4, p = 0.03) was found. In G1, the relationship was opposite (r = -0.5, p = 0.03). Hirsutism correlated negatively with SCQ (r = -0.5, p = 0.02), I (r = -0.5, p = 0.02), and AS (r = -0.5, p = 0.02) only in G1; in other groups, this relationship was insignificant. In G4, higher testosterone level was associated with lower SCQ (r = -0.5, p = 0.008) and AS (r = -0.5, p = 0.003). In G2, testosterone concentration correlated positively with SCQ (r = 0.6, p = 0.01), SE (r = 0.5, p = 0.02), and AS (r = 0.6, p = 0.02). CONCLUSION: In adolescent girls, neither body weight nor clinical features of hyperandrogenism seem to be the source of evaluated disorders in psychological functioning.