No abstract available.
Puberty, Delayed*

A 26-year-old female presented to the paediatric clinic at 11 years of age with poor growth. The detection of delayed puberty, anosmia, coloboma and hearing impairment led to a diagnosis of CHARGE syndrome. This was confirmed by a heterogenous de novo pathogenic variant c.6955C >T:p.(Arg2319Cys) detected in the CHD7 gene. Detailed assessment, including olfaction, ophthalmic and auditory examination should be part of the evaluation framework in children with delayed growth and puberty.
Anosmia ; Puberty, Delayed

Thyroid disorders are prevalent in the paediatric population and untreated hypothyroidism leads to several adverse consequences like mental retardation, neurological impairment, short stature, delayed puberty and increased morbidity. Owing to a wide range of non-specific clinical manifestations, one must have a high index of suspicion for timely diagnosis and treatment of primary hypothyroidism. We describe the case of an adolescent girl who presented with short stature, delayed puberty and feeding difficulties owing to undiagnosed and subsequently untreated hypothyroidism.
Macroglossia ; Puberty, Delayed ; Hypothyroidism

Thyroid disorders are prevalent in the paediatric population and untreated hypothyroidism leads to several adverse consequences like mental retardation, neurological impairment, short stature, delayed puberty and increased morbidity. Owing to a wide range of non-specific clinical manifestations, one must have a high index of suspicion for timely diagnosis and treatment of primary hypothyroidism. We describe the case of an adolescent girl who presented with short stature, delayed puberty and feeding difficulties owing to undiagnosed and subsequently untreated hypothyroidism.
Macroglossia ; Puberty, Delayed ; Hypothyroidism

Humans ; Hypogonadism/drug therapy* ; Male ; Puberty ; Puberty, Delayed ; Treatment Outcome

No abstract available.
Diabetes Mellitus* ; Humans ; Insulin* ; Puberty, Delayed*

PURPOSE: Measurement of testicular volume is useful for the evaluation of puberty and testicular development in boys. Four mililiter of testicular volume means Tanner stage 2, the beginning of puberty, and its ethnic differences were reported. However, there is no reference value for Korean children. We tried to establish the standard testicular volume for Korean boys. METHODS: The subjects were selected among the children who visited the out-patient clinic of Kangdong Sacred Heart Hospital and Korea Cancer Center Hospital for the evaluation of growth from 2003 to 2008. Three hundred seventy two healthy Korean boys, 3 to 17 years of age, were included. We excluded the patients who were diagnosed as precocious puberty, delayed puberty, hypopituitarism, adrenal disorder and other endocrinologic disorder. The testicular volume was determined with Prader orchidometer. Clinical data were collected from patient's chart retrospectively. RESULTS: Right and left testicular volumes were 3.65 +/- 1.82 mL and 3.55 +/- 1.80 mL at 10 (10.0 - 10.9) year of age (n = 53), 6.17 +/- 3.60 mL and 6.13 +/- 3.69 mL at 11 (11.0 - 11.9) year of age (n = 52), respectively. There was no significant difference between right and left testicular volumes. CONCLUSION: The time when testicular volume reached 4 mL seemed to be not changed than previous Korean data. However, further study will be required to determine the secular trend of pubertal timing in Korean boys.
Child ; Heart ; Humans ; Hypopituitarism ; Korea ; Outpatients ; Puberty ; Puberty, Delayed ; Puberty, Precocious ; Reference Values ; Retrospective Studies

Klinefelter syndrome (KS) is one of the most common disease entities characterized by X-chromosomal aberration causing the primary hypogonadism in adult men. Patients with KS seem to be typically characterized by tall, slender bodies with delayed puberty and hypergonadotropic hypogonadism. However, it has been known that they have a broad spectrum of phenotype ranging from almost normal external appearances to typical phenotype. Only 25% KS Patients are ever diagnosed because KS remains unrecognized. Also, boys with KS have an onset of pubertal development within the normal range, not delayed onset of puberty. Adolescents with KS are generally diagnosed as having the lack of pubertal progress. Early detection of KS can be difficult without awareness. We report an unusual case of early onset of puberty in obese boy with KS who presented with a unilateral non-hormone secreting testicular teratoma.
Adolescent ; Adult ; Child ; Humans ; Hypogonadism ; Klinefelter Syndrome* ; Male* ; Phenotype ; Puberty* ; Puberty, Delayed ; Reference Values ; Teratoma

Puberty is the period of first attaining capability of reproduction, and is signed by the appearance of secondary sex characteristics and the occurrence of menarche in females. The timing of puberty is ethnically, sexually and individually variable and is influenced by both genetic and environmental factors. The diagnosis of precocious or delayed puberty is considered when signs of puberty develop before or after 2 standard deviation of the mean age for the onset of puberty. Consequently, a comprehensive understanding of the normal progression of puberty is vital in the evaluation of abnormal pubertal development. In most western countries, the first signs of puberty occur between 8 and 13 years of age. Correspondingly, the recent Korean data have shown that puberty begins in most Korean girls with breast development at the age between 8.7 and 13.9 years. This article reviewed lately published literatures on normal and abnormal pubertal development in Korean adolescent females to delineate features of pubertal disorders in this population.
Adolescent ; Breast ; Female ; Humans ; Korea ; Menarche ; Puberty ; Puberty, Delayed ; Reproduction ; Sex Characteristics

The association of Pseudohypoparathyroidism (PHP) with Turner syndrome is very rare and only a single case has been reported so far. Both manifest with short stature and lack of secondary sexual characteristics along with other stigmata similar to each other, creating a diagnostic dilemma.
We describe a case of a 15-year-old Asian Indian female who presented with short stature and delayed puberty with overlapping phenotype of PHP and Turner syndrome. The diagnosis of Turner syndrome was made easily on the basis of typical history, clinical features and karyotype but the diagnosis of PHP was suspected only after radiological and biochemical investigations. The association of Turner syndrome with PHP can be easily missed due to similar phenotypes and subtle manifestations.

Human ; Female ; Adolescent ; Dwarfism ; Karyotype ; Karyotyping ; Phenotype ; Pseudohypoparathyroidism ; Puberty ; Puberty, Delayed ; Turner Syndrome ; Brachydactyly