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Yendioğandan puberteye kadar kız çocuklarınde pek çok endokrinolojik ve jinekolojik sorun bulunmaktadır.Kitapta bu sorunlara ayrıntılı bir şekilde yer verilmiştir.

Rapid-onset obesity with hypoventilation, hypothalamic dysfunction and autonomic dysregulation (ROHHAD) syndrome is a rare disease that is difficult to diagnosis and distinguish from genetic obesity syndromes. The underlying causes of the disease have not been fully explained. Hypothalamic dysfunction causes endocrine problems, respiratory dysfunction and autonomic alterations. Currently there are around 80 reported patients although this is likely due to underdiagnosis due to lack of recognition. We present two female patients suspected of ROHHAD due to weight gain starting in early childhood. Clinical and biochemical findings such as respiratory and circulatory dysfunction, hypothalamic hypernatremia, central hypothyrodism, hyperprolactinemia and central early puberty in these patients matched the criteria for ROHHAD syndrome. ROHHAD syndrome should be considered in the differential diagnosis of monogenic obesity.

Amaç: Melatonin sentezinde kofaktör olmaları; Mg eksikliğine bağlı kas krampları, uyku bozuklukları, irritabilite ve Zn eksikliği ile ilişkili uyku ve davranış bozuklukları olması infantil kolikli bebeklerin plazma Mg ve Zn düzeylerinin düşük olabileceğini akla getirmiştir. Bu çalışmada infantil kolikli bebeklerin ve annelerinin plazma Mg ve Zn düzeylerinin kontrollerle karşılaştırılması amaçlanmıştır. Gereç ve Yöntemler: Bu kesitsel çalışmaya infantil kolik tanısı alan 1-3 aylık 50 bebek ve 22 sağlıklı kontrol anneleri ile birlikte dahil edilmiştir. Kolik grubu iki alt gruba ayrılmıştır; (1) Mg içeren bitki çayları verilen bebekler (bitki çayı grubu, n=12), (2) Mg ya da Zn içeren herhangi bir destek verilmeyen bebekler (çalışma grubu, n=27). Plazma Mg ve Zn düzeyleri flame fotometride Atomik Absorbsiyon Spektrofotometresi ile ölçülmüştür. Bulgular: Bebeklerin Mg düzeyleri (mg/dl) açısından çalışma grubu (2.46±0.27) ve kontrol grubu (2.37±0.25) arasında fark yoktu (p=0.70). Bununla birlikte plazma Mg düzeyleri bitki çayı grubunda (2.68±1.90) çalışma (2.46±0.27) ve kontrol grubundan (2.37±0.25) daha yüksekti (sırasıyla p=0.04, p=0.004). Bebeklerin Zn düzeyleri, annelerinin Mg ve Zn düzeyleri gruplar arasında farklı değildi (sırasıyla p=0.36, p=0.61, p=0.22). Bitki çayı grubunda dört aile Mg-içeren bitki çaylarından fayda gördüklerini bildirdi, ancak bebeklerinin Mg düzeyleri Mg-içeren bitki çaylarından fayda görmediğini belirten ailelerinki ile benzer bulundu (p=0.79).Sonuç: Kolikli bebeklerin ve annelerinin plazma Mg ve Zn düzeyleri sağlıklı kontrollerinden farklı değildir. Mg desteğinin kolik şiddeti üzerine etkisinin araştırılması için daha ileri çalışmalara ihtiyaç vardır., Objective:Muscle cramps, sleep disorders, and irritability due to Mg deficiency; and sleep and behavioral disorders associated with Zn deficiency and being cofactors in the melatonin synthesis have suggested that plasma Mg and Zn may be in lower levels in colicky infants. This study aimed to compare plasma Mg and Zn levels of colicky infants and the mothers’ with controls. Material and Methods:Fiftyinfants diagnosed with infantile colic and 22 controls aged 1-3 months with their mothers were included in this cross-sectional study. Colic group was divided into two subgroups; (1) infants who were given Mg-contain herbals (herbals-group, n=12), (2) infants who were not given any Mg or Zn-contain supplement (study group, n=27). Plasma Mg and Zn levels were measured by Atomic Absorption Spectrophotometer on flame photometry.Results: Mg levels (mg/dl) of the infants were not different between study group (2.46±0.27) and controls (2.37±0.25)(p=0.70). However, plasma Mg levels were higher in the herbals-group (2.68±1.90)than the study group(2.46±0.27)and controls (2.37±0.25) (p=0.04, p=0,004; respectively). Zn levels (mg/dl) of the infants and Mg and Zn levels of the mothers were not different between the groups (p=0.36, p=0.61, p=0.22; respectively). Four parents in the herbals-groupreported they get benefit from the Mg-contain herbals, but Mg levels were similar with the parents who do not get benefit (p=0.79). Conclusion:Plasma Mg and Zn levels of colicky infants and their mothers’ were not different from healthy controls in this study. Further studies are needed to determine the effect of Mg supplementation on colic severity.

Objective Insulin is an important hormone for intrauterine growth. Irisin is an effective myokine in the regulation of physiological insulin resistance in pregnancy. Leptin and insulin are associated with fetal growth and fetal adiposity. In this study, we aimed to investigate the relationships between irisin, insulin and leptin levels and maternal weight gain, as well as anthropometric measurements in the newborn. Methods Eighty-four mothers and newborns were included in the study. Irisin, leptin and insulin levels were measured in the mothers and in cord blood. Anthropometric measurements in the newborn, maternal weight at the beginning of the pregnancy and at delivery were recorded. Results Birth weight were classified as small for gestational age (SGA), appropriate for gestational age (AGA) and large for gestational age (LGA). There was no difference in irisin levels among the groups. Leptin and insulin levels were found to change significantly according to birth weight (p=0.013, and p=0.012, respectively). There was a negative correlation between the anthropometric measurements of the AGA newborns and irisin levels. This correlation was not observed in SGA and LGA babies. Leptin levels were associated with fetal adiposity. Conclusion While irisin levels are not affected by weight gain during pregnancy nor by birth weight, they show a relationship with anthropometric measurements in AGA infants. These results may lead to the understanding of metabolic disorders that will occur in later life.

İntrauterin büyüme geriliği (İUGR), metafizyal displazi, adrenal hipoplazi konjenita, genital anomalilerin birlikteliği olarak bilinen İMAGe sendromu, ismini bu hastalıkların baş harflerinden almıştır. Konjenital adrenal hipoplazi en ciddi bulgusudur ve genellikle hayatın ilk aylarında meydana gelir. Sunulan hastada da antenatal dönemde ektremite kısalığı saptanmış olup adrenal yetmezlik bulguları postnatal 4. gününde ortaya çıkmıştır. İMAGe sendromunun erken tanısı, sendrom bileşenlerinden olan surrenal yetmezliğin hayati tehlikeye neden olması açısından önemlidir. Sendromun diğer bileşenlerinin bilinmesi karşılaşılan olguda erken müdahaleyi de mümkün kılar. Burada nadir görülmesi nedeniyle İMAGE sendromlu bir olgu, sendromla ilgili kısa literatür bilgileri ile paylaşılacaktır. IMAGe syndrome is an acronym which stands for the intrauterine growth restriction (IUGR), metaphyseal dysplasia, adrenal hypoplasia congenita (AHC) and genitourinary abnormalities. Congenital adrenal hypoplasia is the most serious component of the syndrome which generally occurs during the first months of life. In the presented case, shortness of extremities was detected antenatally and the symptoms of adrenal failure showed up on the 4th day of life. Because the adrenal insufficiency is a life-threatening condition, early diagnosis of this syndrome is very important. Recognition of other components of the disease makes early intervention possible. Being a rare disease, a case with IMAGe syndrome is presented with a short review of the literature.