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Annals of Medicine and Surgery (2012) Jun 2024Pituitary stalk interruption syndrome (PSIS) is a rare congenital condition affecting the pituitary gland and its stalk, leading to hormonal imbalances. PSIS can present...
INTRODUCTION AND IMPORTANCE
Pituitary stalk interruption syndrome (PSIS) is a rare congenital condition affecting the pituitary gland and its stalk, leading to hormonal imbalances. PSIS can present with a wide range of symptoms, including delayed puberty and short stature.
CASE PRESENTATION
This paper discusses two cases of PSIS in patients with a history of growth hormone deficiency. The first case is of a 26-year-old male presenting with fatigue and loss of appetite, while the second case is of a 14-year-old male presenting with delayed puberty. Blood tests revealed hormonal imbalances, and a subsequent MRI confirmed the diagnosis of PSIS. Hormonal supplements were prescribed to manage the condition, and follow-up appointments were scheduled to monitor progress.
CLINICAL DISCUSSION
PSIS can present with a wide range of symptoms, and can be diagnosed at different ages. Early diagnosis and management of PSIS are crucial to prevent long-term complications such as short stature, impaired cognitive function, and infertility. The use of hormonal supplements, as seen in both cases, is essential to manage the hormonal imbalances associated with PSIS. Testosterone replacement therapy is used to treat hypogonadism, while thyroxine and hydrocortisone are used to manage hypothyroidism and adrenal insufficiency, respectively.
CONCLUSION
Early diagnosis and management of PSIS through hormonal supplements are crucial to prevent long-term complications. It is essential to monitor patients' progress through follow-up appointments to ensure optimal management of the condition.
PubMed: 38846834
DOI: 10.1097/MS9.0000000000002123 -
Sex Differences in Temporal Sleep Patterns, Social Jetlag, and Attention in High School Adolescents.Sleep Science (Sao Paulo, Brazil) Jun 2024Insufficient sleep and irregular sleep hours are common in adolescents, who experience a delayed sleep phase due to biopsychosocial changes associated with puberty,...
Insufficient sleep and irregular sleep hours are common in adolescents, who experience a delayed sleep phase due to biopsychosocial changes associated with puberty, resulting in later sleep times. However, early morning class hours shorten sleep duration on weekdays. This condition is harmful to cognitive performance, which may be accentuated in girls due to a greater sleep need and less resistance to sleep deprivation. In this study, we evaluated sex differences concerning temporal sleep patterns, social jetlag, and attention in high school adolescents attending morning classes. Students ( = 146 - F: 73-16.1 ± 0.8 years; M: 73-16.2 ± 0.9 years) completed a Health and Sleep questionnaire, kept a sleep diary for 10 days, which incorporated a Maldonado Sleepiness Scale, and performed a Continuous Performance Task. Girls went to bed earlier and woke up on weekends, and spent more time in bed at night and in 24 h on weekdays and weekends, while they also had a greater irregularity in wake-up times ( < 0.05). There were no differences between sexes in terms of social jetlag, sleep debt, and sleepiness upon awakening ( > 0.05). Regarding attention, the girls had a longer reaction time in phasic alertness ( < 0.01) and a tendency to have fewer errors in selective attention ( = 0.06). These results persisted when controlled for sleep parameters. Therefore, we suggest that girls have a greater sleep need and less resistance to sleep deprivation, while the differences in attention performance could be due to different strategies, the girls could be making a trade, increasing reaction time in favor of better accuracy, while the boys could be prioritizing a faster response time.
PubMed: 38846590
DOI: 10.1055/s-0043-1777831 -
Endocrinology, Diabetes & Metabolism Jul 2024During the process of transition from paediatric to adult health care, counselling concerning fertility is an important issue and is based mainly on serum markers of...
OBJECTIVE
During the process of transition from paediatric to adult health care, counselling concerning fertility is an important issue and is based mainly on serum markers of gonadal function. Here, we analysed these markers in adolescents with various underlying endocrine diseases at the time of transition.
METHODS
After reaching near adult height and late puberty (girls: bone age [BA] ≥14 years, and boys: BA ≥16 years), we assessed stages of puberty according to Tanner and measured testes or ovarian volumes and serum markers of gonadal function (anti-Mullerian hormone [AMH], inhibin B, 17β-estradiol, testosterone).
RESULTS
One hundred and ten patients (56 females and 54 males) were included from May 2010 to March 2016 with multiple pituitary hormone deficiency (MPHD; n = 17), growth hormone deficiency (GHD; n = 35), Turner syndrome (TS; n = 27), short stature after being born small for gestational age (SGA; n = 20) and Klinefelter syndrome (KS; n = 11). Female and male adolescents exhibited mature secondary sexual characteristics. The levels of serum inhibin B and AMH were lower in TS and female MPHD than in GHD and SGA, each independently (p < 0.05). The levels of serum AMH were higher whereas serum inhibin B were lower in male MPHD and KS (p < 0.05). Ovary volumes were significantly smaller in patients with TS, and testicular volumes were smaller in patients with KS.
CONCLUSIONS
After current established treatments with sex steroids, the development of secondary sexual characteristics was mature. However, impaired markers of fertility have been identified in patients with TS, KS and MPHD, reflecting gonadal dysgenesis in TS and KS, but gonadal immaturity in MPHD as gonadal gonadotropin stimulation is lacking throughout development. Consequently, in patients with MPHD, these markers cannot reliably predict individual fertility, which warrants consideration and incorporation in future treatment concepts.
Topics: Humans; Adolescent; Female; Male; Biomarkers; Anti-Mullerian Hormone; Transition to Adult Care; Fertility; Inhibins; Adult; Young Adult; Endocrine System Diseases; Testosterone; Turner Syndrome; Chronic Disease; Estradiol; Puberty; Klinefelter Syndrome
PubMed: 38845445
DOI: 10.1002/edm2.493 -
Frontiers in Endocrinology 2024The association between 25(OH)D and pubertal timing has not been well studied. The aim of this study was to assess the relationship between 25(OH)D levels and pubertal...
BACKGROUND
The association between 25(OH)D and pubertal timing has not been well studied. The aim of this study was to assess the relationship between 25(OH)D levels and pubertal timing in children.
METHODS
Participants aged 6-14 years who had available nutritional and serum sex hormone (total testosterone (TT) and estradiol (E2)) information (n =1318) were included. We conducted a cross-sectional analysis of the associations between 25(OH)D and sex steroid hormones among children in the National Health and Nutrition Examination Survey, 2015-2016. Puberty was indicated by high levels of steroid hormones (TT≥50 ng/dL in men, E2≥20 pg/ml in women) or menarche.
RESULTS
Serum 25(OH)D and pubertal status showed the same trend in both males and females. In the male population, the OR values of serum 25(OH)D between 50 and <75 and ≥75 nmol/L were 0.52 (0.25, 1.08) and 0.64 (0.23, 1.75), respectively, compared with serum 25(OH)D<50 nmol/L. The OR of serum 25(OH)D ≥50 nmol/L compared with <50 nmol/L was 0.54 (0.26, 1.10), and the P value was statistically significant (P=0.048). In the female population, when the serum 25(OH)D concentration was <50 nmol/L, the ORs corresponding to a serum 25(OH)D concentration between 50 and <75 and ≥75 nmol/L were 0.53 (0.29, 0.98) and 0.50 (0.19, 1.30), respectively. The OR of serum 25(OH)D≥50 nmol/L compared with <50 nmol/L was 0.52 (0.19, 0.96), and the P value was statistically significant (P=0.037).
CONCLUSIONS
A lower 25(OH)D level was associated with earlier puberty in both girls and boys. There was a negative association between 25(OH)D concentrations and pubertal timing.
Topics: Humans; Female; Male; Child; Vitamin D; Adolescent; Cross-Sectional Studies; Nutrition Surveys; Puberty; Testosterone; Estradiol; Menarche
PubMed: 38841307
DOI: 10.3389/fendo.2024.1394347 -
Frontiers in Endocrinology 2024The term 'differences of sex development' (DSD) refers to a group of congenital conditions that are associated with atypical development of chromosomal, gonadal, and/or... (Review)
Review
46,XX Differences of Sex Development outside congenital adrenal hyperplasia: pathogenesis, clinical aspects, puberty, sex hormone replacement therapy and fertility outcomes.
The term 'differences of sex development' (DSD) refers to a group of congenital conditions that are associated with atypical development of chromosomal, gonadal, and/or anatomical sex. DSD in individuals with a 46,XX karyotype can occur due to fetal or postnatal exposure to elevated amount of androgens or maldevelopment of internal genitalia. Clinical phenotype could be quite variable and for this reason these conditions could be diagnosed at birth, in newborns with atypical genitalia, but also even later in life, due to progressive virilization during adolescence, or pubertal delay. Understand the physiological development and the molecular bases of gonadal and adrenal structures is crucial to determine the diagnosis and best management and treatment for these patients. The most common cause of DSD in 46,XX newborns is congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, determining primary adrenal insufficiency and androgen excess. In this review we will focus on the other rare causes of 46,XX DSD, outside CAH, summarizing the most relevant data on genetic, clinical aspects, puberty and fertility outcomes of these rare diseases.
Topics: Humans; Adrenal Hyperplasia, Congenital; Puberty; Hormone Replacement Therapy; Fertility; Female; Male; Disorders of Sex Development; Sexual Development
PubMed: 38841305
DOI: 10.3389/fendo.2024.1402579 -
SA Journal of Radiology 2024Fibrous dysplasia (FD) is a rare, non-inherited, congenital bone disorder which may be monostotic or polyostotic. The polyostotic form may rarely present in syndromic...
UNLABELLED
Fibrous dysplasia (FD) is a rare, non-inherited, congenital bone disorder which may be monostotic or polyostotic. The polyostotic form may rarely present in syndromic forms when associated with extra-skeletal manifestations. Mazabraud syndrome is a rare syndrome consisting of polyostotic FD presenting with intramuscular myxomas. McCune-Albright syndrome is recognised by polyostotic FD, precocious puberty and 'café au lait' spots. This report describes an adult patient with Mazabraud syndrome and a child with McCune-Albright syndrome.
CONTRIBUTION
Radiographic findings are typical with bowing deformities, sclerotic, lucent or mixed lesions and bony expansion, often with endosteal scalloping. MRI is often non-contributory and may actually mimic a more aggressive process. Early detection and correct diagnosis allow for early preventative treatment and rehabilitation to prevent devastating neurological sequelae and disability.
PubMed: 38840825
DOI: 10.4102/sajr.v28i1.2877 -
Cell Death & Disease Jun 2024Klinefelter syndrome (47,XXY) causes infertility with a testicular histology comprising two types of Sertoli cell-only tubules, representing mature and immature-like...
Klinefelter syndrome (47,XXY) causes infertility with a testicular histology comprising two types of Sertoli cell-only tubules, representing mature and immature-like Sertoli cells, and occasionally focal spermatogenesis. Here, we show that the immature-like Sertoli cells highly expressed XIST and had two X-chromosomes, while the mature Sertoli cells lacked XIST expression and had only one X-chromosome. Sertoli cells supporting focal spermatogenesis also lacked XIST expression and the additional X-chromosome, while the spermatogonia expressed XIST despite having only one X-chromosome. XIST was expressed in Sertoli cells until puberty, where a gradual loss was observed. Our results suggest that a micro-mosaic loss of the additional X-chromosome is needed for Sertoli cells to mature and to allow focal spermatogenesis.
Topics: Klinefelter Syndrome; Male; Sertoli Cells; Spermatogenesis; Animals; Humans; Mice; RNA, Long Noncoding; Chromosomes, Human, X; X Chromosome
PubMed: 38839795
DOI: 10.1038/s41419-024-06792-6 -
The American Journal of Clinical... Jun 2024The World Health Organization recommends calcium supplementation (1500-2000 mg/d) during pregnancy for women with a low-calcium intake. (Randomized Controlled Trial)
Randomized Controlled Trial
Effects of maternal calcium supplementation on offspring blood pressure and growth in childhood and adolescence in a population with a low-calcium intake: follow-up study of a randomized controlled trial.
BACKGROUND
The World Health Organization recommends calcium supplementation (1500-2000 mg/d) during pregnancy for women with a low-calcium intake.
OBJECTIVES
The purpose of this study was to investigate whether pregnancy calcium supplementation affects offspring blood pressure and growth in The Gambia where calcium intakes are low (300-400 mg/d).
METHODS
Follow-up of offspring born during a randomized controlled trial of pregnancy calcium supplementation (ISRCTN96502494, 1996-2000) in which mothers were randomly assigned to 1500 mg Ca/d (Ca) or placebo (P) from 20 wk pregnancy to delivery. Offspring were enrolled at age 3 y in studies where blood pressure and anthropometry were measured under standardized conditions at approximately 2-yearly intervals. Mean blood pressure and growth curves were fitted for females and males separately, using the longitudinal SuperImposition by Translation and Rotation (SITAR) mixed effects model. This generates 3 individual-specific random effects: size, timing, and intensity, reflecting differences in size, age at peak velocity, and peak velocity through puberty relative to the mean curve, respectively.
RESULTS
Five hundred twenty-three singleton infants were born during the trial (maternal group assignment: Ca/P = 259/264). Four hundred ninety-one were enrolled as children (females: F-Ca/F-P = 122/129 and males: M-Ca/M-P = 119/121) and measured regularly from 3.0 y to mean age 18.4 y; 90% were measured on ≥8 occasions. SITAR revealed differences in the systolic blood pressure and height curves between pregnancy supplement groups in females, but not in males. F-Ca had lower systolic blood pressure than F-P at all ages (size = -2.1 ± SE 0.8 mmHg; P = 0.005) and lower peak height velocity (intensity = -2.9 ± SE 1.1%, P = 0.009). No significant pregnancy supplement effects were seen for other measures.
CONCLUSIONS
This study showed, in female offspring, that pregnancy calcium supplementation may lower systolic blood pressure and slow linear growth in childhood and adolescence, adding to evidence of offspring sexual dimorphism in responses to maternal supplementation. Further research is warranted on the long-term and intergenerational effects of antenatal supplementations. This trial was registered at ISRCTN Registry as ISRCTN96502494.
Topics: Humans; Female; Pregnancy; Male; Dietary Supplements; Blood Pressure; Calcium, Dietary; Follow-Up Studies; Child, Preschool; Adolescent; Gambia; Maternal Nutritional Physiological Phenomena; Adult; Child; Child Development; Prenatal Exposure Delayed Effects; Body Height
PubMed: 38839195
DOI: 10.1016/j.ajcnut.2024.02.025 -
BMC Public Health Jun 2024Adolescents frequently have emotional and behavioral difficulties as they struggle with the challenges of transition from childhood to adulthood. Many struggle...
BACKGROUND
Adolescents frequently have emotional and behavioral difficulties as they struggle with the challenges of transition from childhood to adulthood. Many struggle with issues of body image and eating distress as they deal with the difficult and frequently perplexing changes that occur with puberty. Yet there is surprisingly little research on the emotional and behavioral challenges, as well as body image and eating distress among this sizable population in Uganda. This study sought to assess attitudes and behaviors related to body image and eating distress, as well as emotional and behavioral difficulties among adolescents in Mbarara, Southwestern Uganda.
METHODS
This was a cross-sectional study among 788 adolescents aged 13 to 19 years in secondary schools in Mbarara city and Mbarara district in south-western Uganda. The study employed the Body Image and Eating Distress scale to assess attitudes and behaviors about dieting and body shape and the extended version of the Strengths and Difficulties Questionnaire (SDQ) to assess for perceived emotional and behavioral difficulties. Logistic regression was used to identify the association between body image and eating distress and perceived difficulties.
RESULTS
The prevalence of high body image and eating distress was 10.8% while that of perceived emotional and behavioral difficulties was 45.8%. Some of the adolescents (16.1%) were dissatisfied with their body shape, 24.6% exercised a lot to avoid gaining weight, 15.0% were terrified to gain even a little weight, and 12.1% could not control their eating. More males reported eating large amounts of food at one time (p = < 0.001). Having emotional and behavioral difficulties (aOR: 1.89; 95% CI: 1.18 - 3.02; p = 0.019) and coming from a two-parent household (aOR: 1.79; 95% CI: 1.10 - 2.92; p = 0.019) increased the odds of high body image and eating distress.
CONCLUSION
High levels of body image and eating distress are linked to behavioral and emotional problems and adolescent's family structure. Clinicians who treat adolescents should use a holistic care strategy and be aware of the high prevalence and close association between emotional and behavioral difficulties, concerns about weight, and dieting. It is important to encourage parental involvement and support in providing information about mental health issues among adolescents.
Topics: Humans; Adolescent; Male; Uganda; Female; Body Image; Cross-Sectional Studies; Young Adult; Feeding and Eating Disorders; Psychological Distress; Adolescent Behavior; Surveys and Questionnaires; Prevalence; Feeding Behavior
PubMed: 38835004
DOI: 10.1186/s12889-024-18973-1