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The Neuroradiology Journal Jun 2024Pituitary gland duplication is a rare abnormality and isolated duplication of the pituitary stalk without any pituitary anomaly is an even rarer entity with this case... (Review)
Review
Pituitary gland duplication is a rare abnormality and isolated duplication of the pituitary stalk without any pituitary anomaly is an even rarer entity with this case being the first documented case till date. Although incidentally discovered cases of duplication of pituitary gland (DPG) have been reported, sometimes with a duplicated pituitary stalk, patients with this disorder usually present with other craniofacial abnormalities. Consequently, DPG plus syndrome is used as it is often accompanied by endocrine disturbances and pathologies such as median cleft face syndrome, ocular disorders, craniocervical bony abnormalities, vascular anomalies and tuberomammillary masses. Since this is the first reported case without any additional pituitary gland anomaly, we propose the acronym DPS (duplication of pituitary stalk) to be used to unify this entity as we are certain that much like the previously described pituitary duplication disorders, more cases will be documented independently rather than under the umbrella of pituitary duplication disorders. This is critical as the life expectancy (age of diagnosis) in the cases reviewed in our study is as good as normal population with no obvious increase in mortality as compared to existing pituitary duplication syndromes. We present a case report of a 2 year 7 month old girl who was referred by the paediatrician for evaluation of premature thelarche. The duplication of the pituitary stalk along with mega cisterna magna and tuberomammillary fusion was the only positive finding on imaging with the pituitary gland being absolutely normal.
Topics: Humans; Female; Pituitary Gland; Child, Preschool; Magnetic Resonance Imaging; Pituitary Diseases
PubMed: 37507120
DOI: 10.1177/19714009231193157 -
Current Pediatric Reviews Jul 2023Premature thelarche is the most common pubertal disorder in girls. The condition should be differentiated from central precocious puberty which may result in early...
BACKGROUND
Premature thelarche is the most common pubertal disorder in girls. The condition should be differentiated from central precocious puberty which may result in early epiphyseal fusion and reduced adult height, necessitating treatment.
OBJECTIVE
The purpose of this article is to familiarize physicians with the clinical manifestations of premature thelarche and the clinical features and laboratory tests that may help distinguish premature thelarche from central precocious puberty.
METHODS
A search was conducted in September 2022 in PubMed Clinical Queries using the key term " Premature thelarche". The search strategy included all clinical trials, observational studies, and reviews published within the past 10 years. Only papers published in the English literature were included in this review. The information retrieved from the above search was used to compile the present article.
RESULTS
Premature thelarche denotes isolated breast development before the age of 8 years in girls who do not manifest other signs of pubertal development. The condition is especially prevalent during the first two years of life. The majority of cases of premature thelarche are idiopathic. The condition may result from an unsuppressed hypothalamic-pituitary-gonadal axis in the early years of life, an "overactivation" of the hypothalamic-pituitary axis in early childhood secondary to altered sensitivity to steroids of the hypothalamic receptors controlling sexual maturation, increased circulating free estradiol, increased sensitivity of breast tissue to estrogens, and exposure to exogenous estrogens. The cardinal feature of premature thelarche is breast development which occurs without additional signs of pubertal development in girls under 8 years of age. The enlargement may involve only one breast, both breasts asymmetrically, or both breasts symmetrically. The breast size may fluctuate cyclically. The enlarged breast tissue may be transiently tender. There should be no significant changes in the nipples or areolae and no pubic or axillary hair. The vulva, labia majora, labia minora, and vagina remain prepubertal. Affected girls have a childlike body habitus and do not have mature contours. They are of average height and weight. Growth and osseous maturation, the onset of puberty and menarche, and the pattern of adolescent sexual development remain normal. Most cases of premature thelarche can be diagnosed on clinical grounds. Laboratory tests are seldom indicated. No single test can reliably differentiate premature thelarche from precocious puberty.
CONCLUSION
Premature thelarche is benign, and no therapy is necessary apart from parental reassurance. As enlargement of breasts may be the first sign of central precocious puberty, a prolonged follow-up period every 3 to 6 months with close monitoring of other pubertal events and linear growth is indicated in all instances.
PubMed: 37496240
DOI: 10.2174/1573396320666230726110658 -
Early Human Development Aug 2023A secular trend towards earlier age at menarche has been reported, but the trend in breast development is less clear. We reviewed the evidence on the relationship... (Review)
Review
BACKGROUND
A secular trend towards earlier age at menarche has been reported, but the trend in breast development is less clear. We reviewed the evidence on the relationship between in utero and early life events and breast onset/development.
METHODS
Eligible studies were identified in PubMed and Embase databases. We selected studies in which female human exposure during fetal or the first years of life was measured or estimated, and associations with breast onset or development were evaluated.
RESULTS
Of the 49 cohort studies and 5 cross-sectional studies identified, 43 provided sufficient data to assess associations. High maternal weight, primiparity, and early weight gain, were related to an increased risk of early breast onset/development in most of the studies that analysed these associations, whereas late breast onset/development was associated with preterm birth. Results were inconsistent for smoking in pregnancy, maternal hypertensive disorders, breastfeeding, diabetes, and small for gestational age. No association emerged for maternal age at delivery, alcohol drinking, and selected drug use during pregnancy, and low birth weight.
CONCLUSIONS
The results of this review show that high maternal weight, primiparity and early weight gain were associated with an increased risk of early breast onset/development. Late breast onset/development was associated with preterm birth. Breast development is a key physical marker of puberty onset, and early puberty development is linked to consequences that can reverberate throughout life. Answering the questions about the interconnections between pre/postnatal environmental exposures and their impact on puberty, represents an important area of multidisciplinary research.
Topics: Pregnancy; Infant, Newborn; Female; Humans; Premature Birth; Cross-Sectional Studies; Prenatal Care; Maternal Age; Weight Gain
PubMed: 37421688
DOI: 10.1016/j.earlhumdev.2023.105816 -
Annales D'endocrinologie Feb 2024Aromatase deficiency is a rare disorder, with only a few cases reported in India. We describe a single-center experience in western India, with a systematic review of...
BACKGROUND
Aromatase deficiency is a rare disorder, with only a few cases reported in India. We describe a single-center experience in western India, with a systematic review of genetically proven 46,XX aromatase deficiency patients to evaluate hormonal parameters.
METHODS
Retrospective review of case records, collating phenotypic and genotypic data and molecular modeling. Systematic review of 46,XX aromatase deficiency, analyzing data on gonadotropins, estrogen and androgens.
RESULTS
In the seven patients from our center, presentation was frequent in childhood or adolescence (4/7: delayed puberty or hyperandrogenism), with maternal virilization (4/7), predominance of Prader III/IV (5/7), and initial rearing as females (6/7). Three patients had hypoplastic ovaries. One patient had spontaneous regular menses. We report three novel (p.Arg115Pro, p.Arg192Pro, and c.145+1_145+4delins) and two recurrent variants (p.Val370Met, and c.145+1_145+4delins) in western and northern India, respectively. On systematic review (n=43), gonadotropins were elevated (FSH>LH) across ages (except preterm infants), androgens were elevated in about one-third of cases during childhood and puberty, and estradiol was lower than in controls in mini-puberty and puberty. Spontaneous thelarche and streak ovaries were significantly more frequent in patients with non-truncating and truncating variants, respectively.
CONCLUSION
We report uncommon presentations with possible founder variants, and highlight hormonal parameters across ages. Serum FSH levels were elevated except in preterms, and can be used as a diagnostic marker.
Topics: Male; Infant; Female; Adolescent; Humans; Infant, Newborn; Infant, Premature; Gynecomastia; Androgens; Follicle Stimulating Hormone; Gonadotropins; Aromatase; Infertility, Male; Metabolism, Inborn Errors; 46, XX Disorders of Sex Development
PubMed: 37348676
DOI: 10.1016/j.ando.2023.05.010 -
Journal of Clinical Research in... Aug 2023
Topics: Male; Child; Female; Humans; Animals; Rats; Gynecomastia; Puberty, Precocious; Propolis; Breast; Gonadotropin-Releasing Hormone
PubMed: 37338296
DOI: 10.4274/jcrpe.galenos.2023.2023-5-9 -
The Journal of Clinical Endocrinology... Jul 2023Central precocious puberty (CPP) classically refers to premature activation of the hypothalamic-pituitary-gonadal axis with onset of sexual development before the age of...
Central precocious puberty (CPP) classically refers to premature activation of the hypothalamic-pituitary-gonadal axis with onset of sexual development before the age of 8 years in girls and 9 years in boys. A decrease in the age of thelarche has been reported over the past several decades; however, the tempo of pubertal progression can be slower and adult height may not be adversely affected in many of the girls who experience thelarche at 6-8 years. Outside of this secular trend in the development itself, the past several decades have also brought about advances in diagnosis and management. This includes the widespread use of an ultrasensitive luteinizing hormone assay, decreasing the need for stimulation testing and a better understanding of the genetics that govern the onset of puberty. Additionally, management of CPP using gonadotropin-releasing hormone analogs (GnRHas) has changed with the advent of new longer-acting formulations. Emerging long-term outcomes of GnRHa administration with regards to obesity, cardiovascular risk factors and fertility are reassuring. Despite these advancements, clinical care in CPP is hampered by the lack of well-designed controlled studies, and management decisions are frequently not supported by clear practice guidelines. Data in boys with CPP are limited and this article focuses on the diagnosis and management of CPP in girls, particularly, in those who present with thelarche at the age of 6-8 years.
Topics: Female; Male; Humans; Child; Gonadotropin-Releasing Hormone; Puberty, Precocious; Sexual Development; Fertility; Heart Disease Risk Factors; Follicle Stimulating Hormone
PubMed: 36916130
DOI: 10.1210/clinem/dgad081