Pediatric endocrinologists are the physicians with the most training and experience evaluating<unk> . A complete medical history, review of systems, growth pattern, and physical examination as well as laboratory testing and imaging will reveal most of the systemic diseases and conditions capable of arresting development or delaying<unk> , as well as providing clues to some of the recognizable syndromes affecting the reproductive system. Timely medical assessment is a necessity since as many as half of girls with<unk>  have an underlying pathology. History and physical Constitutional and physiologic delay Children with constitutional delay report that they are shorter than their peer, that their growth has slowed down, and that they are thinner than their classmates. Their growth has begun to slow down years before the expected growth spurt secondary to<unk> , which helps differentiate a constitutional delay from an HPG-axis related disorder. A complete family history with the ages at which parents hit the<unk>  milestones can also provide a reference point for the expected age of<unk> . Growth measurement parameters in children with suspected constitutional delay include a height, a weight, the rate of growth, and the calculated mid-parental height which represents the expected adult height for the child. Malnutrition or chronic disease Diet and physical activity habits, as well as history of previous serious illnesses and medication history can provide clues as to the cause of<unk> .<unk>  growth and<unk>  can be the first signs of severe chronic illnesses such as metabolic disorders including inflammatory bowel disease and hypothyroidism. Symptoms such as fatigue, pain, and abnormal stooling pattern are suggestive of an underlying chronic condition. Low BMI can lead a physician to diagnose an eating disorder, undernutrition, child abuse, or chronic gastrointestinal disorders. Primary failure of the ovaries or testes A eunuchoid body shape where the arm span exceeds the height by more than 5 cm suggests a delay in growth plate closure secondary to hypogonadism. Turner syndrome has unique diagnostic features including a webbed neck, short stature, shield chest, and low hairline. Klinefelter syndrome presents with tall stature as well as small, firm testes. Genetic or acquired defect of the hormonal pathway of<unk>  Lacking the sense of smell (anosmia) along with<unk>  are strong clinical indications for Kallmann syndrome. Deficiencies in GnRH, the signalling hormone produced by the hypothalamus, can cause congenital malformations including cleft lip and scoliosis. The presence of neurological symptoms including headaches and visual disturbances suggest a brain disorder such as a brain tumor causing hypopituitarism. The presence of neurological symptoms in addition to lactation are signs of high prolactin levels and could indicate either a drug side effect or a prolactinoma. Imaging Determination of bone age allows for comparison with chronological age and assessment of future growth potential. Since bone maturation is a good indicator of overall physical maturation, an x-ray of the left hand and wrist to assess bone age usually reveals whether the child has reached a stage of physical maturation at which<unk>  should be occurring. X-ray displaying a bone age <11 years in girls or <13 years in boys (despite a higher chronological age) is most often consistent with constitutional delay of<unk> . An MRI of the brain should be considered if neurological symptoms are present in addition to<unk> , two findings suspicious for pituitary or hypothalamic tumors. An MRI can also confirm the diagnosis of Kallmann syndrome due to the absence or abnormal development of the olfactory tract. However, in the absence of clear neurological symptoms, an MRI may not be the most cost-effective option. A pelvic ultrasound can detect anatomical abnormalities including undescended testes and müllerian agenesis. Laboratory evaluation Workup for<unk> . The first step in evaluating children with<unk>  involves differentiating between the different causes of<unk> . Constitutional delay can be evaluated with a thorough history, physical, and bone age. Malnutrition and chronic diseases can be diagnosed through history and disease-specific testing. Screening studies include a complete blood count, an erythrocyte sedimentation rate, and thyroid studies. Hypogonadism can be differentiated between hyper- and hypo-gonadotropic hypogonadism by measuring serum follicle-stimulating hormone (FSH) and luteinizing hormone (LH) (gonadotropins to measure pituitary output), and estradiol in girls (to measure gonadal output). By the age of 10–12, children with failure of the ovaries or testes will have high LH and FSH because the brain is attempting to jump-start<unk> , but the gonads are not responsive to these signals. Stimulating the body by administering an artificial version of gonadotropin-releasing hormone (GnRH, the hypothalamic hormone) can differentiate between constitutional delay of<unk>  and a GnRH deficiency in boys, although no studies have been done in girls to prove this. It is often sufficient to simply measure the baseline gonadotrophin levels to differentiate between the two. In girls with hypogonadotropic hypogonadism, a serum prolactin level is measured to identify if they have the pituitary tumor prolactinoma. High levels of prolactin would warrant further testing with MRI imaging, except if drugs inducing the production of prolactin can be identified. If the child has any neurological symptoms, it is highly recommended that the physician obtains a head MRI to detect possible brain lesions. In girls with hypergonadotropic hypogonadism, a karyotype can identify chromosomal abnormalities, the most common of which is Turner syndrome. In boys, a karyotype is indicated if the child may have a congenital gonadal defect such as Klinefelter syndrome. In children with a normal karyotype, defects in the synthesis of the adrenal steroid sex hormones can be identified by measuring 17-hydroxylase, an important enzyme involved in the production of sex hormones.
Delayed puberty
Precocious puberty
Late-onset hypogonadism
Prognathism
Oncofertility
Hypogonadotropic hypogonadism
Hyperandrogenism
Male infertility