Premature pubarche during minipuberty - literature review and two case reports.

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.

Cortisol, leptin and free leptin index (FLI) in newborns in the first days of life and their importance for body weight programming.

BACKGROUND: Birth weight and leptin seem to be the factors responsible for early programming of body weight in later life. A marker for leptin action is free leptin index (FLI), which depends on soluble leptin receptor (Ob-Re) (FLI = leptin/Ob-Re). In the present article, we suggest that FLI is modulated partly by cortisol variations observed in newborns in the first days of life and is connected with their postnatal weight loss. METHODS: The study group consisted of 44 full-term newborns. Leptin, cortisol and Ob-Re concentrations were determined in the umbilical cord blood (UCB) and in the newborns' blood (NB) on the fourth day of life, free leptin index (FLI = leptin/Ob-Re) was calculated. Correlations between the assessed parameters and the somatic features of the newborns were examined. RESULTS: Birth weight, length and chest circumference of newborns were positively correlated with leptin concentration in the UCB but not with FLI in the UCB. Cortisol and leptin concentrations, as well as FLI values declined concomitantly with body weight, and were lower on the fourth day of life than on the first one; however, Ob-Re concentration increased (p < 0.0001). There was a positive correlation between the newborns' birth weight loss percentage evaluated on the fourth day of life and FLI in newborns (R = 0.39; p < 0.01). Positive correlations between cortisol and Ob-Re in UCB (R = 0.35; p < 0.02) and in NB (R = 0.36; p < 0.01), as well as a negative correlation between cortisol and FLI (R = -0.32; p < 0.03) in NB were noted. CONCLUSIONS: Our data suggest a possible relationship between cortisol and a soluble leptin receptor (Ob-Re), which changes free leptin index (FLI) and is connected with birth weight loss in newborns. Whether these observations are important for programming of future body weight of children requires further research.

Cord blood lipid profile in healthy newborns: A prospective single-center study.

BACKGROUND: Atherosclerosis may originate during the fetal period, therefore it is reasonable to identify early risk markers of lifestyle diseases. OBJECTIVES: The aim of the study was to determine the relationship between fetal and maternal factors, and the neonatal cord blood lipid profile in term newborns. MATERIAL AND METHODS: In the study group, there were 206 healthy Polish newborns. Newborn characteristics included sex, gestational age at birth, Apgar score, and anthropometric data (weight and length at birth, neonatal ponderal index, head, chest and abdominal circumferences, placenta weight, and placental-fetal weight ratio). Cord blood samples were collected for total cholesterol (TC), high-density lipoprotein (HDL), low-density lipoprotein (LDL), and triglycerides (TG). Information regarding selected maternal factors was collected. RESULTS: The cord blood concentration of TC (p = 0.0007), HDL (p = 0.001) and LDL (p = 0.003) was higher in girls than in boys. A significant positive correlation was found between TG and gestational age (p < 0.0001; r = 0.29). Significant negative correlations between maternal preconception BMI and TC (p = 0.03; r = -0.14), HDL (p = 0.04; r = -0.13) and LDL (p = 0.02; r = -0.15) were observed. CONCLUSIONS: In our study group, the influence of the newborns' gender, gestational age and mothers' preconception BMI on lipid concentration was observed. Further investigations are needed to determine markers in cord blood that may predict future metabolic disorders.

The goiter of a newborn from a mother with Graves´ disease.

INTRODUCTION: Congenital goiter is a rare condition which can be associated with both fetal hyper- and hypothyroidism. It may result from different situations in maternal-fetal thyroid function because antithyroid medication, iodine as well as stimulatory and inhibitory antibodies readily cross the placenta. Aim of the study is the presentation of a newborn infant with congenital goiter and neonatal thyroid suppression that could be attributed to either an in utero exposure to antithyroid drug - propylthiouracil (PTU) or mother´s blocking antibodies. CASE REPORT: Full term neonate was born with enlarged thyroid and signs (laboratory findings) of congenital hypothyroidism. The mother was treated due to hyperthyroidism between 8 and 12 week of pregnancy and presented thyroid-stimulating immunoglobulins (TSI) after delivery. During the treatment with replacement doses of L-thyroxin in infancy period no thyroid antibodies in the child were detected. CONCLUSIONS: The most probable reason was the negative influence of PTU: very high thyroid stimulating hormone (TSH) level since delivery and goiter development indicate that fetal hypothyroidism had been developing for a long time.