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mutation (c.301_302delAG). Treatment of thyroxine (T4), hydrocortisone (HC) and rhGH was initiated sequentially within months. Summary. No signs of CPHD in newborns (e.g. hypoglycemia), gradually developed hormone deficiencies and difficulties with accurate interpretation of MRI findings in order to avoid unnecessary pituitary surgery-those are arguments supporting the need to evaluate patients with CPHD for PROP1 mutations.

Resistance to thyroid hormone due to defective thyroid hormone receptor β (RTHβ) is characterized by markedly elevated thyroid hormone levels accompanied by an inappropriately normal or slightly elevated thyroid-stimulating hormone (TSH) level. The most typical clinical manifestations of RTHβ (frequent occurrence of tachycardia, goiter, and hyperkinetic behavior with not often seen mental retardation or short stature) results from euthyroid state in organs where the affected receptor is predominant and hyperthyroidism where thyroid hormones act with the wild type of thyroid receptor β (WT TRβ). We report here an adolescent patient with signs of hyperthyroidism associated with RTHβ (phenotypic pituitary resistance to thyroid hormone, PRTH) and identified known mutation in the TRβ gene (G344E) previously described in this syndrome. Due to the presented symptoms, she required therapy and finally a dopamine agonist (bromocriptine, BC) was used. A cardioselective β-bloker (atenolol) was associated to obtain heart rate normalization. This safe and efficient BC therapy for RTH in a 2-year follow-up seems to confirm our therapeutic choice.

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Introduction Isolated premature pubarche (PP) in infancy may be the reason for many diagnostic difficulties. This is due to the low incidence and, therefore, the limited number of studies on this subject and the lack of strict laboratory standards because of the physiological variability of gonadotropic hormone and androgen concentrations during minipuberty. Material and methods We aimed to present current knowledge about PP in infancy based on the literature review and 2 cases of male infants with scrotal hair during minipuberty. Results Isolated hair in the pubic region in a boy during the period of minipuberty requires differential diagnosis. After excluding serious aetiology, it seems to be a mild, self-limiting variant of precocious puberty. The phenomenon is probably a result of increased sensitivity of the hair follicles to transiently increased androgen concentration. Conclusions Isolated pubic hair in infancy as a mild, self-limiting variant of precocious puberty in infants should be a diagnosis of exclusion. The condition resolves spontaneously, but it absolutely requires further follow-up to exclude serious aetiology in the case of puberty progression.