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Results for “Sexual Infantilism”

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At least 19 recordsLinked to original sources

Infantile sexuality, gender identity, and obstacles to oedipal progression.

Contrary to when it was first proposed, infantile sexuality nowadays is accepted as an important part of child development. However, Freud's views on masculine primacy and feminine inferiority are seen to be incomplete and inaccurate not only because they over-emphasize sexuality and sexual anatomy, but also because they neglect aggression, object relations, ego and superego functioning, and the sense of self. Infantile sexuality is therefore reconsidered within the broader perspective of gender identity. Within this broader perspective, normal and aberrant sexual development is discussed, and new ideas are offered about familiar concepts such as castration anxiety and penis envy.

Child↗

Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries.

We identified two mutations in the CYP19 gene responsible for aromatase deficiency in an 18-year-old 46,XX female with ambiguous external genitalia at birth, primary amenorrhea and sexual infantilism, and polycystic ovaries. The coding exons, namely exons II-X, of the CYP19 gene were amplified by PCR from genomic DNA and sequenced directly. Direct sequencing of the amplified DNA from the patient revealed two single-base changes, at bp 1303 (C-->T) and bp 1310 (G-->A) in exon X, which were newly found missense mutations and resulted in codon changes of R435C and C437Y, respectively. Subcloning followed by sequencing confirmed that the patient is a compound heterozygote. The results of restriction fragment length polymorphism analysis and direct sequencing of the amplified exon X DNA from the patient's mother indicate maternal inheritance of the R435C mutation. Transient expression experiments showed that the R435C mutant protein had approximately 1.1% of the activity of the wild type, whereas C437Y was totally inactive. Cysteine-437 is the conserved cysteine in the heme-binding region believed to serve as the fifth coordinating ligand of the heme iron. To our knowledge, this patient is the first adult to have described the cardinal features of a syndrome of aromatase deficiency. Recognition that such defects exist will lead to a better understanding of the role of this enzyme in human development and disease.

Adolescent↗

Hypothalamic atrophy presenting as amenorrhea and sexual infantilism in a female adolescent. A case report.

A 17-year-old girl presented with amenorrhea, sexual immaturity and a remote history of head trauma. Provocative testing of the pituitary with thyrotropin releasing hormone, gonadotropin releasing hormone and insulin-induced hypoglycemia revealed intact pituitary function, with hypothalamic insufficiency. Furthermore, magnetic resonance imaging of the brain demonstrated loss of the hypothalamic infundibulum. To our knowledge, these structural defects have not been found with magnetic resonance imaging in cases of hypothalamic atrophy. This case suggests that the infundibulum or pituitary stalk may be vulnerable to traumatic damage, leading to hypothalamic insufficiency persisting into adulthood.

Adolescent↗

Infantile sexuality revisited: the agony and ecstasy of the mother-infant couple.

This article explores the relationship between primitive somatopsychic states of excitation and ecstasy in the early infant-mother nursing dyad and similar states of excitation and ecstasy occurring in sexual intercourse of the adult couple. Clinical material demonstrates the close link between early infantile breast experience and adult genital arousal, illustrating aspects of success or failure in integration of body-sensation states as the core of the self. Failure to master primitive somatopsychic excitations in infancy is held to be relevant in understanding intolerance of excitation in certain adult sexual dysfunctions. This understanding is elaborated to include intolerance of emotional arousal (excitement) in the "analytic intercourse" as well. Maternal functions of containing and modulating excitation and arousal states are proposed as therapeutic interventions on the model of the mother as a "container" for infantile anxieties and excitement, employing empathic identification with her baby in the form of "reverie." "Holding" capacities in mother and therapist facilitate the possibility of integration of psychic and somatic states, allowing a potential for the partners to experience excitement in the interest of creative intercourse, both mental and physical.

Breast Feeding↗

An XX female with sexual infantilism, absent gonads, and lack of Müllerian ducts.

A patient with a 46,XX chromosome constitution showed the following main characteristics: lack of secondary sexual development, female external genitalia with absence of vagina, no gonadal structures, and complete lack of internal genitalia. This is a variant of the gonadal agenesis syndrome so far only described in association with and XY chromosome component. Endrocinology demonstrated that in the absence of gonadal feedback the pituitary responsiveness to synthetic luteinizing hormone-releasing hormone was increased.

Adolescent↗

Reversible hypogonadotrophic hypogonadism in sexually infantile male thalassaemic patients with transfusional iron overload.

OBJECTIVE: To determine the severity and reversibility of the lesion in the hypothalamic-pituitary (H-P) axis of male transfusion-dependent thalassaemic patients with failed puberty (FP). DESIGN AND SUBJECTS: The hypothalamic-pituitary axes of 20 male thalassaemic patients (study group) were compared with two male subjects with idiopathic hypogonadotrophic hypogonadism (IHH) and five prepubertal healthy siblings (control group). GnRH-gonadotrophin insufficiency was characterized by nocturnal 12 h ultradian gonadotrophin profiles followed by a 100 microg GnRH bolus test (GBT) 4-6 times at 6 monthly intervals. Thalassaemic and IHH patients were then subjected to pulsatile subcutaneous GnRH infusions every 120 minutes for 3 months. Ultradian gonadotrophin profiles and GBT were repeated after 6 weeks of GnRH infusion and again at 3 months following infusion. MEASUREMENTS: FSH and LH were measured by radio-immunoassay. Ferritin was assayed by an immunoradiometric method. RESULTS: Patients with IHH who were apulsatile prior to infusion, developed normal gonadotrophin pulses with marked increment in their gonadotrophin responses to the GBT after 3 months of GnRH infusion. In contrast, the thalassaemic patients with apulsatile failed puberty (AFP) remained apulsatile (nonresponders) and had no increment in their gonadotrophin responses to the GBT after GnRH infusion. All patients with pulsatile failed puberty (PFP) had abnormal gonadotrophin pulses prior to GnRH infusion. Their pulse defects were either totally or partially corrected (responders) following infusion. The serum ferritin levels (9500 +/- 500 microg/l vs. 5966.67 +/- 1139 microg/l; P < 0.01) and percentage of organ dysfunction (87% vs. 17%; P < 0.01) were higher in the nonresponders than the responders. CONCLUSIONS: This study shows that thalassaemic patients with severe organ damage and iron overload are likely to be apulsatile with irreversible damage to their hypothalamo-pituitary axis, while those with less severe iron overload are likely to have potentially reversible hypogonadotrophic hypogonadism (HH). Our results also suggest that gonadotrophin pulse parameters, rather than the gonadotrophin response to a GnRH bolus following prolonged pulsatile GnRH infusion, may be more useful in discriminating reversible from irreversible hypogonadotrophic hypogonadism.

Adolescent↗