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Biometric Measurements and Normal Growth Parameters in a Child
Published in Nirmal Raj Gopinathan, Clinical Orthopedic Examination of a Child, 2021
Prateek Behera, Nirmal Raj Gopinathan
An assessment of the child’s sexual maturity during evaluation is an essential component of the clinical examination pertaining to certain disorders. While it is essential for a detailed examination of patients who are admitted for evaluation of their condition, it might be omitted when examining in the outpatient department. The universally accepted method is the one described by Tanner and Marshall, which is also called the sexual maturity rating (SMR). Tanner staging is based on the gradual and often sequential changes in the external genitalia in males, breasts in females, and pubic hair in both males and females. In females, the development of breasts (thelarche) occurs around 8–12 years of age and is the first pubertal change. This is followed by the appearance of pubic hairs (pubarche). In males, puberty starts when the testicular volume becomes more than 4 ml (estimated with an orchidometer), and pubic hairs start to appear usually between 9 and 14 years of age. In both males and females, five SMR ratings have been defined from 1 to 5 (Figure 2.1). While SMR provides some idea about a child’s chronological age, many decisions in adolescent pediatric orthopedics are based on the child’s bone age, which is estimated using radiographs. Tanner staging has been used by investigators in decision-making for the management (of various pathologies),2,3 but there is criticism too. Assigning a Tanner stage to a child has large interobserver and intraobserver variability,4 and it should hence be used judiciously for this purpose.
The Pathophysiology of Childhood Obesity
Published in Fima Lifshitz, Childhood Nutrition, 2020
Certain abnormalities which occur during adolescence are sometimes associated with excess body weight. Overweight children with precocious pubarche (premature puberty) have increased linear growth along with advanced bone age in comparison to similarly aged normal weight children. However, overweight adolescents with precocious pubarche sometimes exhibit abnormal levels of adrenal hormones which may be indicative of adrenal biosynthetic defects. In a few instances, overweight precocious pubarche patients have been found to exhibit elevated pregnenolone, androstenedione, and dehydroepiandrosterone, while normal levels of these hormones were found in other overweight adolescents with precocious pubarche. The fact that normal levels of adrenal hormones were found in some overweight adolescents with precocious pubarche suggests that excess body weight in these patients is not due to excessive adrenal hormones. Jabbar and colleagues32 suggest that precocious pubarche is a separate phenomenon, but that children with this condition, along with obesity, may have additional hormonal abnormalities.
Normal pubertal development and the menstrual cycle as a vital sign *
Published in Joseph S. Sanfilippo, Eduardo Lara-Torre, Veronica Gomez-Lobo, Sanfilippo's Textbook of Pediatric and Adolescent GynecologySecond Edition, 2019
Pubarche is the physical findings of growth of pubic and axillary hair. Pubarche is caused by adrenarche, which is the increase in adrenal androgens, principally dehydroepiandrosterone (DHEA) and androstenedione.1 Mean onset of pubic hair in nonobese girls is 11.57 years and 11.39 years in obese girls. Pubarche begins at a mean age of 10.65 in non-Hispanic black, 11.6 years in non-Hispanic white, and 11.63 in Mexican American girls.29 As with breast development, SMR is used to describe pubic hair development (Figure 1.6).28 When examining pubic hair, it is important to make note of the distribution of the hair. For example, from the prepubertal stage 1 to stage 2, pubic hair begins to grow along the labia; as maturity continues, growth occurs over the mons pubis; and finally at stage 5, growth has occurred on the medial thigh. During the progression through the SMR, the hair becomes more pigmented, coarser, and curlier. There is no SMR for axillary hair. However, a gross scale of 1 (no hair) to 3 (adult pattern of hair) is sometimes used. There is an increase in the activity of glandular tissue, specifically sebaceous glands and merocrine sweat glands. During the initial appearance of pubic and axillary hair, the apocrine glands begin to function.14
CYP19 gene rs2414096 variant and differential genetic risk of polycystic ovary syndrome: a systematic review and meta-analysis
Published in Gynecological Endocrinology, 2021
Priya Sharma, Mandeep Kaur, Preeti Khetarpal
The flow diagram of study selection is presented in Figure 1. The syntax search from various databases identified total 66 papers. During the search no language restriction was applied. Search was done up to July 15 2020 on human. Of these, eight review studies were excluded. One paper was further excluded because of insufficient genotype data available for statistical analysis and three papers excluded because they consider male or precocious pubarche rather than PCOS cases. After inclusion and exclusion criteria, six relevant papers were extracted and one paper after screening of related review paper found, which was also added manually. A total of seven studies exploring the association between CYP19 rs2414096 and PCOS were included for the current meta-analysis. Meta-analysis of eligible CYP19 rs2414096 case–control studies involved 1414 PCOS patients and 1276 controls. The main characteristics of all eligible studies included in meta-analysis are summarized in Table 1.
Arg1201Gln mutation of insulin receptor impairs tyrosine kinase activity and causes insulin resistance: a case report
Published in Gynecological Endocrinology, 2020
The Proband, a 13-year-old Chinese Zhuang girl, was admitted to the hospital for investigation of increased serum testosterone and insulin which were found on a routine health examination. She was an offspring of a nonconsanguineous marriage and had no signs of delayed social development and mental retardation. The results of partial physical examination were showed in Table 1. Her thelarche occurred at age 11 years, and pubarche, glandebalae occurred at age 12 years, but menarche had not occurred. The body hair is exuberant and bushy. AN was present in axillary area and interspersed acne was found on the back. Neither lipoatrophy of the limbs nor fat accumulation in the face and neck region was observed. Mammary gland was symmetrical and at Tanner stage 3, and excess hairs were seen on the areola. Thick pubic hairs presented inverted triangle. Mild hypertrophy of clitoris was noted. Other physical examination findings were normal.
Molecular diagnostics of disorders of sexual development: an Indian survey and systems biology perspective
Published in Systems Biology in Reproductive Medicine, 2019
MR Nagaraja, Satya Prakash Gubbala, C. R. Wilma Delphine Silvia, Ramars Amanchy
Human sex-determining region Y (SRY) protein (204 amino acids) coded by an intronless gene, SRY (a member of SOX gene family, cytogenetic location-Y chromosome p11.2), consists of three parts, i.e., N-terminus part (1–56 codons), high mobility group (HMG) domain (57 ± 136, 80 codons), and C-terminus part (137 ± 204, 68 codons). This DNA-binding protein is responsible for the initiation of male sex determination. In XY fetus, inactivating SRY mutation fails to activate its target genes, in turn bipotential gonad remains undifferentiated leading to complete GD (CGD) (<20% cases) evidenced by streak gonads, presence of uterine remnants (no AMH production), and female external genitalia (no androgen synthesis). These cases usually present at adolescence due to delayed pubarche and primary amenorrhea or may at later adulthood because of gonadal tumors (unilateral or bilateral dysgerminoma) or other tumors (gonadoblastoma, teratoma, or embryonal carcinoma).