He was all of 16 but looked more like a child than a mid-teen. His parents were worried because he didn’t show any signs of puberty, a process that marks the transition from childhood to adulthood. A child has growth spurts and develops sexual maturity. “Unlike other boys his age, this teen lacked facial hair. His voice didn’t deepen enough and he didn’t show any characteristics of sexual development. He was the anxious kind and a social recluse,” says Dr Rama Walia, additional professor, Department of Endocrinology, PGI, Chandigarh, whom the confused parents turned to for help.

“He had Hypogonadotropic Hypogonadism, a condition where the brain fails to send the correct hormonal signals to the reproductive glands, preventing the initiation or progression of puberty. This failure can be due to a variety of genetic or acquired factors,” she says, having developed a test for early detection of the problem. Excerpts:

What is delayed puberty?

Puberty changes are driven by a finely tuned hormonal system controlled by the brain’s hypothalamus and pituitary gland, which communicate with the ovaries or testes to produce the necessary sex hormones like estrogen and testosterone. However, when this complex hormonal signalling system malfunctions, the timing of puberty can be affected in two major ways: it can be significantly delayed, as seen in Hypogonadotropic Hypogonadism, or it can start too early, leading to what is known as precocious or early puberty.

Delayed puberty is typically defined by the absence of puberty signs in girls by age 13 or in boys by age 14. On the opposite spectrum, early puberty is when puberty starts before the age of eight in girls or nine in boys. Parents and teachers should be aware of these age cutoffs. For puberty delays, parents must look for signs like lack of breast growth and absence of menstruation in girls and no sexual organ development in boys. Early identification and appropriate treatment can completely transform the life trajectory of affected children.

What delays puberty?

These are largely caused by genetic traits that interfere with the functioning of the hypothalamus or pituitary gland. Other triggers include tumours in the brain region that control hormone release, infections, injuries and systemic illnesses.

What should parents look for?

Teens with delayed puberty often lack sexual characteristics, remain significantly shorter than their peers and may experience low bone density and infertility if not treated. As they feel isolated and different, they lack confidence and withdraw from social interactions. The failure to develop normally can lead to physical problems such as stunted growth and osteoporosis due to low hormone levels necessary for bone development. Fertility can also be severely compromised in adulthood.

Early puberty has its own set of risks; children who mature too early often stop growing sooner, leading to shorter adult height. Moreover, early exposure to sex hormones may predispose them to metabolic conditions like diabetes and hypertension later in life. Emotional and behavioural issues, including early onset of mood disorders and difficulty adjusting socially, are well-documented.

Both delayed and early puberty are not merely variations of normal development but represent underlying medical problems that require timely evaluation and treatment.

What about early detection?

We have developed a test called FSH-stimulated Inhibin B (FSH-iB) test. This measures how a patient’s inhibin B (a hormone produced by the ovaries and testes that plays a key role in fertility) levels respond after an injection of follicle-stimulating hormone (FSH). This test demonstrated 100% sensitivity and specificity for predicting onset of puberty, easing diagnosis of delayed puberty.

What about therapies?

Hormone replacement therapy, tailored to each child’s condition, can effectively initiate or regulate puberty, allowing children to develop normally and reach appropriate adult height and sexual maturity. For Hypogonadotropic Hypogonadism, therapies may include administration of hormones to regulate ovaries and testes or direct hormone replacement with estrogen and testosterone.

Now, the team has in a new study tested a novel combination therapy regimen to induce sperm development in boys with delayed puberty and found it to be both safe and effective compared to conventional therapies.

Early puberty can be controlled with medications that suppress premature hormone production, allowing growth to continue until the appropriate age.