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Primary amenorrhea. Varied etiology.

Investigation of primary amenorrhea is usually initiated by the age of 14 years if there is delayed puberty absent secondary sexual characteristics and absent menses, or no menstruation within 4 years of the onset of adrenarche and thelarche. We established diagnosis in our 3 cases on the basis of chromosomal analysis, hormonal analysis, diagnostic laparoscopy, and histopathological examination of the samples biopsied. We identified 3 varied etiologies.

Adult↗

[Idiopathic and secondary osteoporosis in childhood].

Osteoporosis is a common disease characterized by reduced bone mass, with a consequent increase in bone fragility and susceptibility to fracture risk. Bone mineral density (BMD) measurement is used to make the diagnosis of osteoporosis prior to incident fracture, and to predict fracture risk. BMD is determined by the peak bone mass achieved, and the rate and timing of subsequent bone loss. Dual-energy X-ray absorptiometry (DEXA) is the most popular and effective method utilized for osteoporosis screening. Bone disease is a side effect of concern regarding chronic glucocorticoid (GC) administration. Most GC-treated patients exhibit a process of bone loss, frequently leading to osteoporosis, with increased fracture risk, especially in spinal vertebrae. Osteogenesis imperfecta is an inherited and generalized connective tissue disorder characterized mainly by bone fragility. Idiopathic osteoporosis of childhood or adolescence without blue sclerae and other stigmata of osteogenesis imperfecta is occasionally observed and sometimes more than one sib is affected. Beta-thalassemia major is associated with significant bone disease. The etiology of the bone disease is still debatable, many factors can adversely affect bone accretion in thalassemic patients. These include delayed puberty, bone marrow expansion, the deleterious effects of desferrioxamine, iron overload and genetic factors. Current treatment alternatives of osteoporosis include bisphosphonates, calcitonin, and selective estrogen receptor modulators.

Absorptiometry, Photon↗

Hydrocephalus in children.

The word "hydrocephalus" is derived from two Greek words: hydro meaning water; and cephalus meaning head; also known as "water on the brain". Historically it is believed to result from imbalance between CSF production and absorption, with net accumulation of fluid in the cranial cavity; characterized by increase in size of the cerebral ventricles. It is classified as: Communicating hydrocephalus, in which flow is not obstructed, but CSF is inadequately reabsorbed in the subarachnoid space and the Non-communicating hydrocephalus or the Obstructive type, in which flow of CSF from the ventricles to subarachnoid space is obstructed. This type may also be sub-classified into Congenital and Acquired. The overall incidence of hydrocephalus is not known. Approximately 55% of all hydrocephalus are congenital. The etiology depends upon the age of the child. The clinical features are increase in the size of head, with wide anterior fontanelle, prominent scalp veins, sun-setting eyes, optic nerve atrophy, nystagmus and increased muscle tone in children upto 2 years. Children more than 2 years may present with these as hydrocephalus progresses; or if the fontanelles are closed, head size may be normal. These may present with optic atrophy or papilloedema, abnormal hypothalamic functions (short stature or gigantism, obesity, delayed puberty, primary amenorrhea or menstrual irregularity and diabetes inspidus) and spastic lower limbs. Performance IQ is worse than verbal IQ and learning problems are common. The diagnostic procedures include measurement of head circumference, Plain X ray of head, Ventriculography, Pneumoencephalography, Ultrasonography, Computed Tomography and Magnetic Resonance Imaging. The management may be non-surgical and surgical.

Cerebrospinal Fluid Shunts↗

[Disorders of psychosexual maturation in adolescents with residual organic deficiency].

The paper is concerned with disorders of psychosexual maturity in adolescents (n-70). For that purpose in view a comparative nosological study of the early residual organic psychopathlike conditions (46 cases) and of organic psychopathies (24 cases) formed during the pubertal crisis was done at a forensic psychiatry hospital. According to the data obtained in the majority of the test subjects, there occurred asynchronisms of puberty (80%). Unlike group II (organic psychopathy) where disharmonic puberty was predominant, retarded puberty was recorded most frequently in group I. The main variants of psychosexual maturity were distinguished within the framework of the forms indicated: 2 variants in retardation and 6 variants in disharmonic puberty. Disharmonic puberty, then retarded puberty and pubertas precox were found to be dangerous for the onset of sexual disorders (perversions, deviations). Expert criteria for assessing the depth of sexual disorders were specified in addition. The new data obtained are of importance of both general and forensic psychiatry.

Adolescent↗

Puberty and pubertal disorders.

The authors have focussed in this article on normal physical growth during puberty and events during adolescence with a brief mention of pubertal disorders.

Adolescent↗

[A case of Kallmann syndrome: usefulness of the aging male's symptoms rating scale for assessment of subjective symptoms].

We report a case of Kallmann syndrome in which the aging male's symptoms rating scale (AMS) was useful for assessment of subjective symptoms. A 30-year-old male was admitted to Tsukuba University Hospital with a complaint of delayed puberty in May 2003. He presented with hypogonadism, gynecomastia and anosmia. The plasma levels of luteinizing hormone (LH), follicle stimulating hormone (FSH) and testosterone were very low. However, the LH-releasing hormone test and human chorionic gonadotropin (hCG) loading test identified normal function of pituitary and Leydig cell. After 12 months of treatment with hCG and human menopausal gonadotropin (hMG), the amount of pubic hair and the volume of testes had increased as well as the level of serum testosterone. The total score of AMS after treatment has been improved from 39 to 20 as compared with that before treatment.

Adult↗

[Anti-Müllerian hormone (AMH) measurements in the assessment of testicular function in prepubertal boys and in sexual differentiation disorders].

UNLABELLED: In males AMH is produced by the testes from fetal life to puberty. The main role of AMH in the male fetus is to cause Müllerian duct regression, in prepubertal boys AMH is involved in testicular development and function. THE AIM OF THIS STUDY was to assess the use of a sensitive assay kit of AMH measurements in the diagnosis and management of children with abnormal sexual differentiation and cryptorchidism. We also compared the serum AMH levels with testosterone levels after hCG stimulation. METHODS: We assessed serum AMH levels in 79 prepubertal patients: gonadal dysgenesis (n=23), partial androgen insensitivity (n=4), scrotal hypospadiasis (n=16), bilateral cryptorchidism (n=20), anorchia (n=10) and unilateral cryptorchidism (n=6). Earlier hCG test was performed (one dose of 2000 IU/m2 i.m.) and testosterone levels were determined. RESULTS: AMH level was not impaired in patients with unilateral cryptorchidism and partial androgen insensitivity (median 350 pmol/l). AMH was normal in most of boys with scrotal hypospadiasis (median 317 pmol/l). Significant differences were observed between AMH levels in boys with hypospadias and patients with gonadal dysgenesis (median 174 pmol/l; p<0,001). In the cryptorchid group AMH level was normal in 50% of boys. There was a significant difference between AMH levels in cryptorchid boys (median 249.5 pmol/l) and patients with anorchia; (p<0,001). AMH levels were almost undetectable in boys with vanishing testes (median 1.0 pmol/l). The basal AMH levels were correlated with testosterone response to hCG. CONCLUSIONS: When testes are non-palpable a single measurement of serum AMH level can distinguish between cryptorchidism and anorchia. AMH determination can help in the diagnosis of intersex conditions. Our data demonstrated that basal AMH measurements correlate with testosterone response to hCG. Serum AMH concentration in prepubertal children is a marker of testicular function. Preoperative measurement of AMH can be useful in the management of children with cryptorchidism and intersex disorders.

Anti-Mullerian Hormone↗

Puberty and its disorders in girls.

Current concepts of normal and pathologic puberty have been reviewed. The key event in normal puberty is the commencement of pulsatile secretion of GnRH during sleep, which leads to augmentation of LH levels with the onset of sleep. Schemata are presented for the initial evaluation of patients with primary amenorrhea and secondary amenorrhea based on whether they are hypoestrogenic or estrogenized. Menstrual abnormalities are also discussed from a diagnosis-based perspective. The role of the bone age in differential diagnosis of pubertal disorders is emphasized. The variable presentations of Turner syndrome, hyperprolactinemia, and PCOS are reviewed. Current understanding of the role of undernutrition and stress in anorexia nervosa, psychogenic amenorrhea, and athletic amenorrhea is presented, and management guidelines are reviewed. The evidence that premature pubarche is usually due to premature adrenarche is discussed. The concept that premature thelarche lies on a spectrum between normal and early puberty is discussed. The reader is also reminded that many girls with idiopathic true sexual precocity do not require treatment to preserve height potential.

Adolescent↗

Prolactin action in cystic fibrosis.

The pathophysiology of cystic fibrosis (CF), the secretory properties of CF cells and conductance studies of CF cells and membranes suggest that the basic defect of CF is an abnormality of regulation affecting a broad spectrum of functions. Prolactin (PRL) was proposed as the putative regulatory factor, because the multifarious activities of PRL, especially the well documented osmo- and electrolyte regulatory effects, can be related to all of the symptoms of CF. These include salt loss in sweat, abnormal mucus production, impaired intestinal digestion and absorption, male infertility, delayed puberty, failure to thrive, etc. Additionally those tissues in lower vertebrates in which PRL activity has been demonstrated are phylogenetically related to many of the tissues affected in CF.

Chlorides↗

Coexistence of celiac disease and Down syndrome.

Three patients with Down syndrome and celiac disease were described. The incidence of celiac disease among patients with Down syndrome was calculated to be 8 per 1,000 live-born cases, a figure 20 times greater than in children without Down syndrome, indicating that it should be kept in mind when examining patients suffering from recurrent diarrhea and/or delayed puberty.

Adolescent↗

[Andrologic problems in adolescence].

No precise distinction is usually made now between puberty and adolescence. Therefore, we describe the physiology and pathology of both phases with their characteristic clinical features, hormonal changes, and therapeutic consequences. In addition, we refer to the typical problems of this age group, the psychic and somatic variants of the norm; special regard is paid to puberal gynecomastia and obesity.

Adolescent↗

[The current possibilities in the diagnosis of hypogonadotropic hypogonadism].

The diagnosis of hypogonadotropic hypogonadism must be clinically suspected. They produce differential diagnosis problems. The possibilities of diagnosis are reviewed (static hormonal determination, dynamic test-clomiphene test, LHRH acute test, etc.), highlighting the pulsating administration of LHRH which, together with endogenous pulsating of LHRH study (more difficult), are the most useful procedures in differentiating the level of the lesion of hypogonadotropic hypogonadism, as well as differentiating the puberty delayed cases.

Clomiphene↗

On the occurrence of macroorchidism and mental handicap in the Aarskog syndrome.

In this report we present follow-up on two moderately mentally retarded boys with Aarskog syndrome. As 22 other mentally normal Aarskog patients these two boys presented a catch-up after a delayed puberty with a final adult height of 160 cm. A remarkable finding was the development of macroorchidism in two mentally retarded Aarskog patients. The pathogenesis of macroorchidism in the fragile X syndrome and in other X-linked mental retardation syndromes is discussed.

Growth Disorders↗