Testosterone Replacement Therapy in Adolescents With Sickle Cell Disease Reverses Hypogonadism Without Promoting Priapism: A Case Report.

Delayed puberty secondary to hypogonadism is commonly seen in sickle cell disease (SCD), affecting normal growth and development. The condition is rarely treated in SCD for fear of inducing priapism episodes. We present a case report of an Afro-Jamaican adolescent male at 16 years of age who presented with symptoms of delayed puberty as well as frequent stuttering priapism episodes. Endocrinological assessment revealed low serum total testosterone levels. Treatment was commenced monthly with testosterone enanthate which resulted in improved symptoms of delayed puberty, improvement in anthropometric parameters while apparently ameliorating priapism episodes.

The effect of earlier puberty on cardiometabolic risk factors in Afro-Caribbean children.

An earlier onset of puberty is associated with increased cardiometabolic risk. We investigated whether this relation was independent of faster childhood growth or current size in an Afro-Caribbean birth cohort (n=259). Anthropometry was measured at birth and then 6-monthly. Tanner staging started at age 8 years. Cardiometabolic risk factors were measured at mean age 11.5 years. In boys, pubarchal stage and testicular size were associated with lower high-density lipoprotein cholesterol, higher systolic blood pressure, and higher homeostasis model assessment of insulin resistance score, but not after adjusting for current body mass index (BMI) or rate of growth (up to age 8 years). In girls, earlier menarche and greater breast development were associated with higher fasting glucose even after adjusting for current BMI or prior growth. Pubarchal stage was associated with systolic blood pressure, even after adjusting for current BMI and prior growth. We concluded that earlier puberty is independently associated with cardiometabolic risk in girls but not in boys.

Multigenerational inheritance and clinical characteristics of three large pedigrees with early-onset type 2 diabetes in Jamaica.

OBJECTIVE: To document the existence and clinical characteristics of three large families with multigenerational inheritance of early-onset type 2 diabetes in Jamaica. METHODS: Three probands from large families with multigenerational inheritance of early-onset type 2 diabetes in at least three generations were detected at the University Hospital of the West Indies in Jamaica. Each proband at the time of diagnosis was < 25 years of age, was lean, and did not require insulin therapy. Clinical, metabolic, and genetic assessments were undertaken to profile the diabetes in the three families. RESULTS: Three pedigrees--BK, SU, and CA--consisting of 38, 48, and 113 members, respectively, with multigenerational inheritance of early-onset type 2 diabetes in at least three generations, were investigated. The mean age at diagnosis of the three pedigrees was 31.5 +/- 2.9 years, with 10 persons detected below 25 years of age. Findings suggestive of overweight, insulin resistance, low insulin secretion, dyslipidemia, and mild intra-abdominal obesity were present. Islet cell antibodies and sequence variants in MODY1 to -6 genes were absent. CONCLUSIONS: Large families demonstrating multigenerational inheritance of diabetes and other characteristics consistent with early-onset type 2 diabetes are present in the Jamaican population.

Multigenerational inheritance and clinical characteristics of three large pedigrees with early-onset type 2 diabetes in Jamaica / Herencia multigeneracional y características clínicas de la diabetes tipo 2 de inicio temprano en tres árboles genealógicos grandes de Jamaica

OBJECTIVE: To document the existence and clinical characteristics of three large families with multigenerational inheritance of early-onset type 2 diabetes in Jamaica. METHODS: Three probands from large families with multigenerational inheritance of early-onset type 2 diabetes in at least three generations were detected at the University Hospital of the West Indies in Jamaica. Each proband at the time of diagnosis was < 25 years of age, was lean, and did not require insulin therapy. Clinical, metabolic, and genetic assessments were undertaken to profile the diabetes in the three families. RESULTS: Three pedigrees-BK, SU, and CA-consisting of 38, 48, and 113 members, respectively, with multigenerational inheritance of early-onset type 2 diabetes in at least three generations, were investigated. The mean age at diagnosis of the three pedigrees was 31.5 ± 2.9 years, with 10 persons detected below 25 years of age. Findings suggestive of overweight, insulin resistance, low insulin secretion, dyslipidemia, and mild intra-abdominal obesity were present. Islet cell antibodies and sequence variants in MODY1 to -6 genes were absent. CONCLUSIONS: Large families demonstrating multigenerational inheritance of diabetes and other characteristics consistent with early-onset type 2 diabetes are present in the Jamaican population.

OBJETIVO: Documentar la presencia de herencia multigeneracional de la diabetes de tipo II de inicio temprano en tres familias jamaiquinas grandes y describir sus características clínicas. MÉTODOS: En el Hospital Universitario de West Indies en Jamaica, se detectaron tres probandos de familias grandes en las que se observó herencia multigeneracional de la diabetes tipo 2 de inicio temprano en al menos tres generaciones. Al momento del diagnóstico, cada probando tenía # 25 años de edad, era delgado y no necesitó insulinoterapia. Se emprendieron estudios clínicos, metabólicos y genéticos con el fin de determinar las características particulares de la diabetes que presentan estas tres familias. RESULTADOS: Se investigaron tres árboles genealógicos -BK, SU y CA- conformados por 38, 48 y 113 miembros, respectivamente. Cada árbol presentaba herencia multigeneracional de diabetes tipo 2 de inicio temprano en al menos tres generaciones. En los tres árboles genealógicos, la media de la edad al momento del diagnóstico fue de 31,5 ± 2,9 años y 10 personas tenían menos de 25 años. Se observaron signos indicativos de sobrepeso, resistencia insulínica, baja secreción de insulina, dislipidemia y obesidad intrabdominal leve. No se hallaron anticuerpos contra las células de los islotes ni variantes en la secuencia de los genes MODY1 a MODY6. CONCLUSIONES: Algunas familias grandes de la población jamaiquina presentan herencia multigeneracional de la diabetes y otras características indicativas de diabetes tipo 2 de inicio temprano.

Growth, body composition, and the onset of puberty: longitudinal observations in Afro-Caribbean children.

CONTEXT: Childhood growth and body composition may influence the onset of puberty. OBJECTIVE: We examined the effects of birth size, growth rates throughout childhood, and body composition on the onset of puberty in Afro-Caribbean children. DESIGN AND SETTING: This was a longitudinal birth cohort study (the Vulnerable Windows Cohort Study) in Jamaica. SUBJECTS AND MEASUREMENTS: The anthropometry (weight, height, skinfold measurements, and waist circumference) of 259 children was measured at birth, at 6 wk, every 3 months to 2 yr, and then every 6 months. Tanner staging for puberty and orchidometry were performed every 6 months starting at approximately age 8 yr. Bioelectrical impedance was done at age 11 yr. RESULTS: In the girls, thelarche, pubarche, and menarche occurred at median ages of 8.8, 9.9, and 12.0 yr, respectively. Pubarche in boys occurred at a median age of 11.3 yr when the median testicular volume was 2.8 ml. Faster weight gain during infancy (age 0-6 months) and childhood, but not birth size, was associated with more advanced puberty (P values <0.05). Fat mass at age 8 yr was associated with more advanced puberty (P values <0.001) in both sexes. At age 11 yr, lean mass, but not fat mass, was associated with more advanced puberty (P values <0.001). CONCLUSION: These data support the hypothesis that faster growth throughout childhood, especially with fat mass accretion, is associated with more advanced puberty apart from menarche. With the onset of puberty, lean mass accretion significantly increases.

Exercise in the treatment of children with diabetes

The normal development of children should be first and foremost, and secondly physical education and sport should be regarded as fun along with the competitive aspect, which makes sport exciting. The same principles which apply to normal children apply to children with diabetes. This means considering their developmental stage, physiological development and physical capabilities, as well as the organisation of sport, suitability of equipment, appropriate coaching strategies and parental guidance. The benefits and risks of exercise for the child with diabetes are similar to those for adults. Evidence is lacking as to whether long-term control as a result of exercise is probable and whether there will be retardation or progression of complications. Young children with diabetes should be in optimal metabolic control to benefit from participation in sport.(AU)

Exercise in the treatment of children with diabetes

The normal development of children should be first and foremost, and secondly physical education and sport should be regarded as fun along with the competitive aspect, which makes sport exciting. The same principles which apply to normal children apply to children with diabetes. This means considering their developmental stage, physiological development and physical capabilities, as well as the organisation of sport, suitability of equipment, appropriate coaching strategies and parental guidance. The benefits and risks of exercise for the child with diabetes are similar to those for adults. Evidence is lacking as to whether long-term control as a result of exercise is probable and whether there will be retardation or progression of complications. Young children with diabetes should be in optimal metabolic control to benefit from participation in sport.

Torsion of an intra-abdominal testicle in a neonate: case report and review of the literature

The thirty-ninth reported case of torsion of an intra-abdominal testicle is described in a neonate. The gonad was excised as is recommended because of the high incidence of malignancy (60 percent of 37 cases). Torsion of an intra-abdominal testicle should be considered where an abdominal mass with calcification is found in an infant with undescended testis. Ultrasonography improves the diagnostic accuracy in infants because of the cystic nature of these masses in this age group.(AU)

Testosterone deficiency and extreme retardation of puberty in homozygous sickle-cell disease

Homozygous sickle-cell (SS) disease is associated with retardation of physical and sexual development but most Jamaican children commence their adolescent growth spurt before 16 years of age. Analysis of growth from children in the Jamaican Cohort Study noted extreme growth retardation , defined as an absence of the adolescent growth spurt and pre-pubertal sexual development (Tanner stage 1 or 2) at age 16 years, in 8/52 (15 percent) SS boys. These and two boys from the general sickle-cell clinic with a similar growth pattern provided a study group of 10 boys who were investigated for a possible endocrine explanation for their extreme retardation of physical maturation. A sub-optimal testosterone response (<10 nmol/l) to human chorionic gonadotrophin and an exaggerated gonadotrophin hormone releasing hormone was consistent with poor testicular function in 5 boys. Retardation of adolescent growth and development is common in boys wit SS disease but, when extreme, requires early investigation to identify potentially correctable mechanisms (AU)

Testosterone deficiency and extreme retardation of puberty in homozygous sickle-cell disease

Homozygous sickle-cell (SS) disease is associated with retardation of physical and sexual development but most Jamaican children commence their adolescent growth spurt before 16 years of age. Analysis of growth from children in the Jamaican Cohort Study noted extreme growth retardation , defined as an absence of the adolescent growth spurt and pre-pubertal sexual development (Tanner stage 1 or 2) at age 16 years, in 8/52(15 per cent) SS boys. These and two boys from the general sickle-cell clinic with a similar growth pattern provided a study group of 10 boys who were investigated for a possible endocrine explanation for their extreme retardation of physical maturation. A sub-optimal testosterone response (<10 nmol/l) to human chorionic gonadotrophin and an exaggerated gonadotrophin hormone releasing hormone was consistent with poor testicular function in 5 boys. Retardation of adolescent growth and development is common in boys wit SS disease but, when extreme, requires early investigation to identify potentially correctable mechanisms

Neuropathies in children with diabetes mellitus - abstract

Type I diabetes mellitus has a prevalence in the tropical climates significantly less than in more temperate climates. The incidence rates are greater for Caucasians than Blacks or Orientals and, in the paediatric population, has a bimodal age presentation: 6 - 8 years and 12 - 15 years. The onset has no sex preponderance but has a seasonal variation, occurring in the cooler months. An increased incidence is also noted with outbreaks of viral respiratory diseases. The strong association with histocompatibility groups B8/B15 and D3/D4 has been well documented and HLA B7 is though to have a possible protective effect. Diabetic complications in childhood tend to be primarily acute conditions such as ketoacidosis hypoglycaemia, cataracts and mononeuropathies. The chronic complications are significantly less common in childhood and include growth and pubertal delay, retinopathy, nephropathy, neuropathy and dermatological disorders. Diabetic neuropathy may be classified simply into: - distal symmetric polyneuropathy + autonomic neuropathy, - mononeuropathies, - proximal/motor neuropathy. The diagnosis of diabetic neuropathy has been controversial; however, various criteria have been applied involving: Neuropthic Symptom Score (NSS), Neuropathy Disability Score (NDS), Quantitative Sensory Testing (QST), Electrophysiological Studies. No specific studies in the literature relate to children under 17 years of age with diabetic neuropathy. The Pittsburh Epidemiology Deibetes Complications Study looked at individuals diagnosed prior to 17 years of and found that the prevalence of diabetic neuropathy increases with both age and duration of diabetes. It noted a prevalene rate of 30 percent at 20 years' duration of disease. The use of QST and electrophysiological studies increased the prevalence significantly in this study. These data were also supported by a multicentre UK hospital clinic population study which in addition showed a prevalence rate of 5 percent in the 20 - 29-year-age group vs 44 percent in the 70 -79-year age group. In conclusion, diabetic neuropathy is uncommon in childhood, with a prevalence that increases with age and disease duration. There is a need for techniques to allow earlypre-clinical diagnosis which are easily apllicable. This will allow for more studies to be done in children and enable better understanding of the early phase of diabetic neuropathy (AU)

Extreme retardation of puberty in homozygous sickle-cell disease - abstract

Homozygous sickle-cell (SS) disease is associated with retardation of physical and sexual development but most Jamaican SS children commence their adolescent growth spurt before 16 years of age. Analysis of growth data from children in the Jamaican Cohort Study, however, noted 8/52 SS boys (15 percent) to have extreme retardation of growth, defined as absence of the adolescent growth spurt and prepubertal sexual development (Tanner stage 1 and 2) at age 16 years. Two boys from the sickle-cell clinic who also met these criteria were included to provide a study group of 10 boys who were investigated for a possible endocrine explanation for their extreme retardation of physical maturation. A sub-optimal testosterone response (<10 nmol/l) to human chorionic gonadotrophin occurred in 5/10 boys, consistent with poor testicular function. An impaired growth hormone response (peak levels <15 miu/l) with w growth hormone stimulation tests also occurred in 5/10 boys. Extreme retardation of adolescent growth and development in boys with SS disease should be investigated to identify potentially correctable mechanisms (AU)

Primary hypophosphatemic rickets: an uncommon cause of bowed legs

This paper describes a 9-year-old girl with primary hypophossphatemic ricketts, an uncommon cause of bowed legs. A simple screening for patients presenting with bowed legs is suggested and the importance of using age-related standards for comparison of biochemical results is emphasized (AU)