A New Case of Turner Syndrome with Early Pubertal Development

Turner syndrome (TS) is a relatively common chromosomal disorder caused by complete or partial X monosomy. The most frequently observed karyotype, 45, X, arises more often by loss of the paternal X or Y chromosome in meiosis or in early embryogenesis than by loss of the maternal X chromosome. The main clinical features of TS are short stature, gonadal dysgenesis, and not to undergo pubertal development (e.g. primary amenorrhea). However, a few rare cases of TS have shown precocious puberty. Our case of a 9-year-old girl did not have any TS-specific clinical hallmarks, with the exception of short stature. She visited our clinic because of her pubertal development and short stature. In this report, we highlight the variability that can occur in patients with TS and emphasizes the need to carefully assess unusual growth patterns in any child, regardless of other underlying conditions.

Comparing Women and Men’s Experiences with Kallmann Syndrome

Topic: Kallmann syndrome (KS) is a congenital olfacto-genital disease. Affected persons show an absence of physical pubertal development, and their sense of smell is reduced or absent (anosmia). The prevalence is 1:40,000 in women and 1:8000 to 1:10,000 in men. Development of gender identity corresponds to the assigned gender at birth. The cause of KS is a genetic defect. To date, only a few systematic investigations have delved into the psychological disstress and consequences of the somatic characteristics of KS. In order for affected persons to be appropriately informed, well-founded research results are necessary. The focus of the present study aims at examining the similarities and differences between the psychological disstress and consequences women and men experience through the development, on the one hand, and through its medical treatment on the other. The present text complements current findings on the psychological consequences of KS in men [1] and women, respectively [2]. Two questions lie at the center of the comparison: 1) Which similarities and which gender-specific differences are there concerning the perceived burdens? 2) Which coping strategies have been developed in dealing with the burdens and consequences caused by KS in the affected women and men? Which similarities and which gender-specific differences are there with respect to these coping strategies? Methodology: The survey has been carried out by means of topically focused narrative interviews of 16 men and 5 women. Based on the qualitative content analysis according to Mayring [3], categories have been generated and evaluated on the basis of the interview material. The results of the male and female samples have been contrasted and analyzed in gender-specific relevant key subjects [1,2]. Results: The comparison shows that the burdens women and men experience through KS go beyond the somato-medical problems, and that the psychosocial consequences are a heavy burden for the members of both groups. Men bear a heavier burden through insecurities and shame about the absence of virilization and subsequently suffer more from bullying and marginalization experiences. They also perceive mood changes more frequently and as more burdensome through the course of hormone treatment. Women also develop shame due to the absence of female body development;they do, however, perceive this as less burdensome than do men. They suffer particularly from a loss of libido before and also during hormone treatment. Differences occur concerning the gender-specific hormone treatment and its effects on mood and libido. Wellfounded statements relating to this do, however, require further-reaching studies. In women, KS is frequently misdiagnosed as simply estrogen deficiency, which could be an explanation for the differing degree of prevalence. The preferred coping strategies for both sexes include confidential talks with suitable people, such as parents, the partner, friends, or a psychotherapist. Using support from psychotherapists, sex education, and/or sexual therapists is recommended when necessary. Conclusion: Psychotherapeutic/psychological support is recommended for both women and men diagnosed with KS, taking into account the gender-specific differences in dealing with the burdens KS imposes. The focus for both sexes should be on developing and strengthening body image and self-esteem. In medical treatment for both women and men, normal or inconspicuous body development should be emphasized. Particularly in the case of women, sex therapy should be available for support due to loss of libido. For men, therapy should be recommended, so as to strengthen their social capabilities and self-confidence. Additional studies are necessary for examining the effects of hormonal treatment on mood and libido and phenotyp.

s age at puberty associated with semen quality ant ＇eproductive hormones in young adult life？

The evidence is scarce on the association between age at puberty and semen quality. A cohort of 320 Danish men aged 18-21 years enrolled in the ＂Healthy Habits for Two＂ birth cohort provided self-reported data on pubertal indicators and delivered semen and blood samples. The results indicated an association between older age at pubertal development and lower semen quality and altered reproductive hormones concentrations as measured in young adult life. Men who had their first nocturnal emission, start of pubic hair growth and first voice break episode when older than 15 years had 37.0%, 45.0% and 32.7% lower sperm concentration; 37.8%, 44.2% and 29.1% lower total sperm count; 7.4%, 13.4% and 15.3% lower testosterone concentration; and 21.3%, 1.5% and 3.7% lower inhibin B concentration, respectively, compared with the men who were younger than 13 years at their first pubertal indicators. Only few of the results were statistically significant, but similar tendencies were seen in several of the reproductive parameters suggesting an association between the timing of pubertal development and reproductive health later in life.