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Biomedical subjects

Richard Stanhope

Publications and source records attributed to Richard Stanhope.

17 recordsLinked to original sources
PubMed2004

Transition from paediatric to adult endocrinology: hypopituitarism.

For patients at the transition stage between childhood and adulthood, cooperation between paediatric and adult endocrinologists is essential for optimum care. Evaluations of patients in transition consist of retrospective assessments of what happened in childhood combined with prospective planning for treatment and follow up into adult life. Successful transfer of patients in transition from paediatric to adult care should follow a general sequence tailored to local circumstances. First, all patients with GH deficiency and their families should be informed by their paediatric endocrinologist about the long term consequences of GH deficiency in adulthood and the potential need for life-time GH replacement therapy. Second, retesting will be needed for evaluating hypothalamic pituitary function, re-evaluation of the need for replacement therapy for other pituitary hormone deficits, measurement of fasting lipid concentration and assessment of skeletal integrity. Third, the patient and physicians should consider the option of attending an out-patient clinic having both a paediatric and an adult endocrinologist. Regardless, the wishes of the patient should be respected as much as possible. It is essential that those patients who had childhood-onset GH deficiency and who were treated with GH be followed throughout adult life.

Adolescent↗
PubMed2003

Cytogenetic and Y chromosome microdeletion screening of a random group of infertile males.

OBJECTIVE: To assess whether to perform routine cytogenetic and Y chromosome microdeletion screening on all infertile male patients. DESIGN: A cytogenetic and Y microdeletion study of a random group of infertile men. SETTING: University department. PATIENT(S): In total, 40 patients had azoospermia (21 nonidiopathic), 27 had severe oligozoospermia/oligoasthenozoospermia (<or=5 x 10(6)/mL) (5 nonidiopathic), 20 had oligozoospermia/oligoasthenozoospermia (5-20 x 10(6)/mL) (6 nonidiopathic), and 16 had asthenozoospermia (5 nonidiopathic). Many were candidates for intracytoplasmic sperm injection (ICSI). INTERVENTION(S): Collection of blood samples from all patients and buccal cells from one patient. MAIN OUTCOME MEASURE(S): Karyotype analysis, polymerase chain reaction (PCR) screening for Y chromosome microdeletions, and fluorescence in situ hybridization of abnormal chromosomes. RESULT(S): Ten (9.7%) subjects, including one nonidiopathic patient, were found to have an abnormal karyotype. Two idiopathic azoospermic patients were missing large portions of Y chromosome euchromatin, confirmed by PCR analysis and an additional idiopathic azoospermic patient had a Y chromosome microdeletion. CONCLUSION(S): Routine cytogenetic analysis of all infertile male patients is required but it may be advisable to limit routine Y chromosome microdeletion screening to patients with severe male factor infertility (<or=5 x 10(6)/mL).

Chromosome Deletion↗
PubMed2003

Labial adhesions in a girl with isolated premature thelarche: the importance of estrogenization.

BACKGROUND: Premature thelarche, a benign condition that affects young girls, has been associated with elevated estrogen levels. On the contrary, labial fusion, a common pediatric gynecological problem, has been associated with low estrogen status. These two conditions are not known to coexist in the same patient. CASE: We report the case of a 2-yr-old girl with premature thelarche and labial fusion occurring contemporaneously. She presented with a 7-month history of perivaginal itchiness and a palpable painless breast bud. Examination revealed unilateral breast enlargement (Tanner stage 2) and partially fused labia minora. Pelvic ultrasound findings and gonadotrophin responses to intravenous LHRH were consistent with a diagnosis of isolated premature thelarche. Furthermore, elevated serum estradiol levels were found. COMMENT: The combination of isolated premature thelarche and labial adhesions in our patient suggests the existence of other factors as well as estrogen insufficiency in the etiology of the latter.

Breast↗
PubMed2003

Cell proliferation activities on skin fibroblasts from a short child with absence of one copy of the type 1 insulin-like growth factor receptor (IGF1R) gene and a tall child with three copies of the IGF1R gene.

The type 1 IGF receptor (IGF1R) is required for normal embryonic and postnatal growth. The aim of this study was to determine whether we could detect abnormal IGF1R function in skin fibroblasts from children with an abnormal copy number of the IGF1R gene. We report two children with altered copy number of the IGF1R gene who presented with abnormal growth. Case 1 is a girl with intrauterine growth retardation, postnatal growth failure, and recurrent hypoglycemia. Pituitary function tests were normal. Routine karyotype analysis identified a deletion on 15q26.2, and a fluorescence in situ hybridization study using IGF1R probes showed only a single IGF1R gene. Case 2 was large for gestational age, with birth weight and length at or above 97th percentile, and showed rapid early postnatal growth. He was found to have a recombinant chromosome 15 containing a partial duplication at 15q (q25-qter). A fluorescence in situ hybridization study using the same probes showed three copies of the IGF1R gene. In a mitochondrial activity assay, skin fibroblasts from the subject with only one copy of IGF1R showed slower growth, whereas cells from the subject with three copies of IGF1R showed accelerated growth compared with controls. IGF1R phosphorylation, as assessed by Western blot, and IGF1R binding studies were decreased compared with controls in the child with one copy of the IGF1R and increased in the child with three copies of the gene. Our data are consistent with the concept that IGF1R gene copy number is of functional and clinical importance in humans.

Body Height↗
PubMed2002

Body mass index and segmental proportion in children with different subtypes of psychosocial short stature.

UNLABELLED: We describe change in height, segmental proportion and weight in 46 children (19 girls, 27 boys, all but four prepubertal) diagnosed by a multidisciplinary team as having psychosocial short stature (PSS) who had a change in their environment (31 were separated from their family). The classification of PSS has recently been modified to include appetite disturbance at presentation: hyperphagic (IIA), non-hyperphagic (IIB) and anorexic type (III). The 46 patients were subdivided into these three classifications and analysed separately concerning their auxology and change in body mass index before and after intervention. Although in all groups a significant improvement in height velocity SDS was seen after intervention, subtle differences in body proportions could be demonstrated. Proportional short stature was seen in both non-anorexic types of PSS (type IIA and type IIB) and did not change with intervention, whereas a significant change in body proportion was found in the anorexic type (type III). Body mass index at presentation was within normal limits and did not increase significantly in any of the three subgroups after intervention. CONCLUSION: the main diagnostic feature of psychosocial short stature is catch-up growth after change of environment which occurs in almost all patients. The classification on the basis of appetite disturbance was supported by our auxological data with specific differences in body proportions.

Adaptation, Psychological↗
PubMed2002

Delayed puberty.

Puberty is the acquisition of secondary sexual characteristics associated with a growth spurt and resulting in the attainment of reproductive function. Delayed puberty is diagnosed when there is no breast development by 13.4 years of age in a girl and no testicular enlargement by 14.0 years in a boy. The aetiologies are: (i) pubertal delay, either with constitutional delay of growth and puberty or secondary to chronic illness, and (ii) pubertal failure, with hypogonadotrophic (defect in the hypothalamo-pituitary region) or hypergonadotrophic (secondary to gonadal failure) hypogonadism, or both (secondary to radio/chemotherapy). The investigation includes: history, auxological data and pubertal development examination. Boys usually require treatment and, if they do not respond, investigation. In girls it is appropriate to measure the thyroid function and karyotype first and, if necessary, to offer treatment. If they present with dysmorphic features, or positive familial history, an assessment is required before treatment.

Adolescent↗
PubMed2002

Endocrinopathies associated with midline cerebral and cranial malformations.

We systematically reviewed a series of patients (n = 85) with midline cerebral and cranial malformations to correlate the endocrinopathy with the neuroanatomic defect. Midline cleft lip and palate was associated not only with growth hormone deficiency (GHD) but also with diabetes insipidus (DI); holoprosencephaly and optic nerve hypoplasia with absence of the septum pellucidum had a similar incidence of GHD and DI. Optic nerve hypoplasia with absence of the septum pellucidum had the highest incidence of multiple pituitary endocrinopathies and of neonatal hypoglycaemia. Unilateral, although more commonly bilateral, optic nerve hypoplasia was associated with GHD.

Child↗