HOSP #	MRN94883340	WARD	Paeds Endocrine Clinic
CONSULTANT	Jody Rusch / Ariane Spitaels	DOB/AGE	17 year female

Abnormal Result

Prolactin 51.1 ug/L

Monomeric Prolactin 36.2 ug/L

Presenting Complaint

Amenorrhoea (more details unknown)

History

The patient presented with a tempoparietal tumour and had received two episodes of radiotherapy – was asked by the oncologists to be reviewed by the Endocrinologists.

Mother stopped epilim (reason unknown)

Patient currently has amenorrhoea (unknown whether it is primary or secondary)

Examination

Residual right hemiplegia

Unfortunately no other facts about the physical examination are known

Laboratory Investigations

• Normal TFT:
  • TSH 1.7 mIU/L (0.51 – 4.3)
  • Free T4 16.2 (12.6 – 21.0)
• Cort 11am 330 nmol/L
• FSH 3.8 IU/L
• LH 2.4 IU/L
• E3 106 pmol/L
• Prol 51.1 ug/L
• Monomeric Prolactin 36.2 ug/L
• Recovery: 70.8%

Other Investigations

Proposed investigations:

• Pregnancy test (most common cause of amenorrhoea)
• Ovarian ultrasound to exclude early-onset PCOS (which may become a diagnosis of exclusion)
• History about prior amenorrhoea
• Brain MRI to visualize pathology in the cranium

Final Diagnosis

Hyperprolactinemia – likely causing amenorrhoea – cause yet to be determined

Take Home Message

Hyperprolactinemia is perhaps one of the most common problems in clinical endocrinology. It relates with various aetiologies (see below), the clarification of which requires careful history taking and clinical assessment. Analytical issues (presence of macroprolactin or of the hook effect) need to be taken into account when interpreting the prolactin values. Medications and sellar/parasellar masses (prolactin secreting or acting through “stalk effect”) are the most common causes of pathological hyperprolactinaemia. Hypogonadism and galactorrhoea are well-recognized manifestations of prolactin excess, although its implications on bone health, metabolism and immune system are also expanding. Treatment mainly aims at restoration and maintenance of normal gonadal function/fertility, and prevention of osteoporosis; further specific management strategies depend on the underlying cause.

The main physiological causes of hyperprolactinemia:

• Ovulation
• Pregnancy
• Breastfeeding
• Stress
• Exercise
• Nipple stimulation or chest wall injury

Pathological

• Prolactin-secreting pituitary adenoma
• “Stalk-effect” from sellar / parasellar lesions
• Renal failure
• Liver cirrhosis
• Primary hypothyroidism
• Polycystic Ovarian Syndrome
• Seizures

Pharmacological

• Antipsychotics / neuroleptics
• Antidepressants
• Antiemetics
• Opioids
• Antihypertensives

It is clear in this case that the history is quite important in any patient in whom hyperprolactinemia is detected, since a vast array of causes exist.

For an excellent review on prolactin: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6947286/

For another case of high prolactin see:

HOSP #	Faku, A RXH 155717598	WARD	Endocrine clinic
CONSULTANT	Jody Rusch / Amith Ramcharan	DOB/AGE	5y female

Abnormal Result

Abnormal inexplicable lauging spells: Gelastic seizures

Presenting Complaint

The patient, a 5y female presented to the medical emergency departement with status epilepticus, more accurately described as gelastic seizures: laughing for no apparent reason.

These seizures was eventually controlled with multiple anti-convulsants: 2 doses of midazolam, phenobarbital and a loading dose of phenytoin. The seizures have resolved just before the clinicians wanted to initiate Lucrin.

History

No previous medical history of note. This was the first presentation of the child to hospital with disease.

Examination

Unusual findings:

• Tanner III breasts – confirmed by an Endocrinologist
• Height Taller than +2 z-scores
• Bone age 8y

Laboratory Investigations

LH pending (expected to be high)

FSH pending (expected to be high)

E3 pending (expected to be high due to stimulation from above via GnRH)

Other Investigations

CT brain was ordered swiftly, and a hamartoma in the hypothalamic region of the brain was visualized.

Final Diagnosis

Precocious puberty – most likely due to the Tanner III breasts

Hypothalamic hamartoma (HH) – likely the focus of the epileptic episode (gelastic seizure) as well as the cause of the precocious puperty.

Take Home Message

Gelastic seizures is the term used to describe focal or partial seizures with bouts of uncontrolled laughing or giggling. They are often called laughing seizures. The person may look like they are smiling or smirking.

New to me was that HH’s are often associated with producing LH or GnRH itself:

The most common, and usually the only, endocrine disturbance in patients with HH and epilepsy is central precocious puberty (CPP). The mechanism for CPP associated with HH may relate to ectopic generation and pulsatile release of gonadotropin-releasing hormone (GnRH) from the HH, but this remains an unproven hypothesis. Possible regulators of GnRH release that are intrinsic to HH tissue include the following: (1) glial factors (such as transforming growth factor α – TGFα) and (2) γ-aminobutyric acid (GABA)–mediated excitation. Both are known to be present in surgically-resected HH tissue, but are present in patients with and without a history of CPP, suggesting the possibility that symptoms related to HH are directly associated with the region of anatomic attachment of the HH to the hypothalamus, which determines functional network connections, rather than to differences in HH tissue expression or pathophysiology.