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Clinical Case Reports Jun 2024Among the total 10 reported cases with 20p13 microdeletion, including our patient, it is notable that 50% of patients presented a height below the 3rd percentile. We...
KEY CLINICAL MESSAGE
Among the total 10 reported cases with 20p13 microdeletion, including our patient, it is notable that 50% of patients presented a height below the 3rd percentile. We suggest that short stature is among the most common manifestations in patients with 20p13 subtelomeric microdeletion.
ABSTRACT
Chromosome 20p13 microdeletion occurs rarely, with only 10 reported cases. We report a 16-year-old male with a 1.59 Mb terminal deletion in chromosome 20p13, who presented with proportionate short stature, mild language delay, mild learning disability, and delayed puberty. The clinical phenotype associated with this deletion can exhibit clinical variability. Our patient deviates from the typical developmental and intellectual phenotype seen in the 20p13 deletion, instead displaying mild speech delay, short stature, and delayed puberty. The deletion, leading to haploinsufficiency, might be the potential mechanism. And the prominence of his proportionate short stature provides a unique perspective to review the existing literature.
PubMed: 38863865
DOI: 10.1002/ccr3.8927 -
Frontiers in Endocrinology 2024
Topics: Turner Syndrome; Humans; Female; Adult; Young Adult; Transition to Adult Care; Adolescent
PubMed: 38859906
DOI: 10.3389/fendo.2024.1431972 -
Fertility and Sterility Jun 2024To investigate if maternal stress in pregnancy is associated with pubertal timing in girls and boys and to explore potential mediation by childhood body mass index (BMI)...
OBJECTIVE
To investigate if maternal stress in pregnancy is associated with pubertal timing in girls and boys and to explore potential mediation by childhood body mass index (BMI) and childhood psychosocial stress.
DESIGN
Cohort study.
SUBJECTS
In total, 14 702 girls and boys from the Puberty Cohort, nested within The Danish National Birth Cohort (DNBC).
EXPOSURE
Maternal stress was obtained from a computer-assisted telephone interview in gestational week 30-32 as maternal life stress and emotional distress in pregnancy using questions based on validated screening tools. Maternal life stress and emotional distress in pregnancy was analysed separately and in an interaction analysis.
MAIN OUTCOME MEASURES
Pubertal timing was measured half-yearly from age 11 years and throughout pubertal development and assessed as Tanner stages 1-5 (breast and pubic hair development in girls and genital and pubic hair development in boys), menarche in girls, voice break and first ejaculation in boys and occurrence of acne and axillary hair in both girls and boys. A combined estimate for overall pubertal timing was derived using Huber-White robust variance estimation. Mean differences in age at attaining the pubertal milestones according to prenatal exposure to no (reference), low, moderate, or high maternal stress in pregnancy were estimated using a multivariable censored regression model. Potential mediation by childhood BMI and childhood psychosocial stress was investigated in separate models.
RESULTS
After adjustment for potential confounding factors, prenatal exposure to high maternal life stress (combined estimate: -1.8 months (95% CI: -2.7, -0.8) and -0.9 months (95% CI: -1.8, 0.0)), high maternal emotional distress (combined estimate: -1.5 months (95% CI: -2.5, -0.5) and -1.7 months (95% CI: -2.8, -0.7)), and both high maternal life stress and emotional distress (combined estimate: -2.8 months (95% CI: -4.2, -1.4) and -1.7 months (95% CI: -3.1, -0.2)) was associated with earlier pubertal timing in girls and boys, respectively. The associations were not mediated by childhood BMI or childhood psychosocial stress.
CONCLUSIONS
Prenatal exposure to maternal stress in pregnancy was associated with earlier pubertal timing in girls and boys in a dose-dependent manner. The associations were not mediated by childhood BMI or childhood psychosocial stress.
PubMed: 38848953
DOI: 10.1016/j.fertnstert.2024.06.001 -
JCEM Case Reports Jun 2024OMIM 273750 (3-M) syndrome is a rare cause of severe short stature with variable dysmorphic features caused by pathogenic variants in several genes including cullin7...
OMIM 273750 (3-M) syndrome is a rare cause of severe short stature with variable dysmorphic features caused by pathogenic variants in several genes including cullin7 gene (). Hypogonadism and hypospadias have been described in only a few males. We report a patient with 7 pathogenic variant who had bifid scrotum and perineal hypospadias at birth. He entered puberty spontaneously at age 12 years and appropriately completed pubertal development by 15 years. Subsequently, a regression of testicular volumes, increased gonadotropin levels, and reduced (although normal) testosterone levels were observed. This case highlights the importance of careful pubertal monitoring as pubertal dysfunction may be associated with 3-M syndrome.
PubMed: 38847008
DOI: 10.1210/jcemcr/luae084 -
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